Del/dup analysis

Del/dup analysis can now be ordered in addition to NGS panels. Read more about upgraded testing options at each portfolio or see the price list www.asperbio.com/Asper-Biogene-price-list. Feel free to contact us if there are any additional genes you would need to be included in the analysis.

Limb-Girdle Muscular Dystrophy NGS panel

Limb-Girdle Muscular Dystrophy
NGS panel

Genes: ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKTN, GMPPB, HNRNPDL, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ANO5, CAPN3, DYSF, FKRP, LCAV3, MNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24

Lab method: MLPA

Price / TAT: 1343 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Tuberous Sclerosis NGS panel

Tuberous Sclerosis
NGS panel

Genes: TSC1, TSC2

Price / TAT: 803 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: TSC1, TSC2

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Leukodystrophy and Leukoencephalopathy NGS panel

Leukodystrophy and Leukoencephalopathy
NGS panel

Genes: ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SOX10, SUMF1, TREX1, TUBB4A

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ABCD1, ASPA, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1

Lab method: MLPA

Price / TAT: 1070 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Congenital Myopathy and Distal Myopathy NGS panel

Congenital Myopathy and Distal Myopathy
NGS panel

Genes: ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis 

Genes: MTM1, MTMR1

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Urea Cycle Disorder NGS panel

Urea Cycle Disorder
NGS panel

Genes: ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC7A7, SLC25A13, SLC25A15

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the OTC gene

Genes: OTC

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Porphyria NGS panel

Porphyria 
NGS panel

Genes: ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ALAD, CPOX, FECH, HMBS, PPOX, UROD, UROS

Lab method: MLPA

Price / TAT: 710 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Methylmalonic Aciduria and Homocystinuria NGS panel

Methylmalonic Aciduria and Homocystinuria
NGS panel

Genes: ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, IVD, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN1, TCN2

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the MLYCD gene

Genes: MLYCD

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Lysosomal Storage Disease NGS panel

Lysosomal Storage Disease
NGS panel

Genes: AGA, ARSA, ARSB, ASAH1, CLN3, CLN5. CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: GLA, HEXA, IDS, NPC1, NPC2

Lab method: MLPA

Price / TAT: GLA gene – 310 EUR / 4-6 weeks
HEXA gene – 310 EUR / 4-6 weeks
IDS gene – 310 EUR / 4-6 weeks
NPC1, NPC2 genes – 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Fatty Acid Oxidation Disorder NGS panel

Fatty Acid Oxidation Disorder
NGS panel

Genes: ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the SLC22A5 gene

Genes: SLC22A5

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Familial Lipoprotein Lipase Deficiency

Familial Lipoprotein Lipase Deficiency
Sequencing of the LPL gene

Genes
(full
coding region):
 LPL

Lab method: Sanger sequencing

Price / TAT: 267 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the LPL gene

Genes: LPL

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Dilated Cardiomyopathy NGS panel

Dilated Cardiomyopathy
NGS panel

Genes
(full
coding region):
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, GATAD1, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PKP2, PLN, RAF1, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: BAG3, TNNT2

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Melanoma NGS panel

Melanoma
NGS panel

Genes: CDK4, CDKN2A, MITF

Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: CDK4, CDKN2A, CDKN2B, MITF

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome
Sequencing of the AR gene

Genes: AR

Lab method: Sanger sequencing

Price / TAT: 535 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1,2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the AR gene

Genes: AR

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel

Arrhythmogenic Right Ventricular Dysplasia/
Cardiomyopathy
NGS panel

Genes
(full
coding region):
CTNNA3, DES, DSC2, DSG2, DSP, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: DSP, PKP2

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Alpha Thalassemia

Alpha Thalassemia
Deletion Analysis

Genes: HBA1, HBA2

No of
detectable
markers:
7 deletions

Lab method: PCR

Price / TAT: 91 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

500 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: HBA1, HBA2

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Beta Thalassemia

Beta Thalassemia
Sequencing of the HBB gene

Genes: HBB

Lab method: Sanger sequencing

Price / TAT: 257 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the HBB gene

Genes: HBB

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Fanconi Anemia

Fanconi Anemia
NGS panel

Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: FANCA, FANCB, FANCD2, PALB2

Lab method: MLPA

Price / TAT: 1070 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Craniosynostosis NGS panel

Craniosynostosis
NGS panel

Genes: FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, TWIST1

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the TWIST1 gene

Genes: TWIST1

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Skeletal Dysplasia NGS panel

Skeletal Dysplasia
NGS panel

Genes: ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP11, TWIST1, WNT5A

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: COL2A1, TWIST1

Lab method: MLPA

Price / TAT: COL2A1 gene – 310 EUR / 4-6 weeks
TWIST1 gene – 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Thyroid Cancer NGS panel

Thyroid Cancer
NGS panel

Genes: APC, CDC73, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD, TP53

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: MEN1, SDHB, SDHC, SDHD

Lab method: MLPA

Price / TAT: SDHB, SDHC, SDHD genes – 590 EUR / 4-6 weeks
MEN1 gene – 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Fanconi Anemia

Fanconi Anemia
NGS panel

Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: FANCA, FANCB, FANCD2, PALB2

Lab method: MLPA

Price / TAT: 1070 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Pulmonary Arterial Hypertension NGS panel

Pulmonary Arterial Hypertension
NGS panel

Genes
(full
coding region):
ACVRL1, BMPR2, BMPR1B, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ACVRL1, BMPR2

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Neurodegeneration with Brain Iron Accumulation NGS panel

Neurodegeneration with Brain Iron Accumulation
NGS panel

Genes: ATP13A2, COASY, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: PANK2, PLA2G6

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Epilepsy NGS panel

Epilepsy
NGS panel

Genes
(full
coding region):
AARS, ADAR, ADSL, ALDH7A1, ALG3, ALG13, ARHGEF9, ARX, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CACNA1D, CACNA1H, CACNB4, CASK, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, CSTB, DEPDC5, DNM1, DOCK7, EEF1A2, EFHC1, EPM2A, FGF12, FLNA, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HUWE1, ITPA, IQSEC2, KCNA1, KCNA2, KCNB1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, KIF1A, KIF5C, LGI1, MBD5, MCCC1, MECP2, MEF2C, MOCS1, MOCS2, MTOR, NECAP1, NHLRC1, NRXN1, PCDH19, PIK3R2, PIGA, PIGO, PIGT, PLCB1, PNKP, PNPO, POLG, PRICKLE1, PRRT2, PURA, RELN, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SERPINI1, SIK1, SLC12A5, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SNIP1, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYP, SZT2, TBC1D24, TCF4, TSC1, TSC2, TUBB3, UBE3A, WDR45, WWOX, ZDHHC9

List of diseases covered by the panel


Price / TAT: 1546 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1, PCDH19, SCN1A, SLC2A1, STXBP1, WWOX

Lab method: MLPA

Price / TAT: 1334 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Testing of at risk family members for known mutations
3. Prenatal diagnosis for known familial mutations
4. Genetic counseling

Epilepsy is a clinically and genetically heterogeneous group of disorders characterized by epileptic seizures and other symptoms of neurological problems. Epilepsy can be caused by strokes, brain tumors, head injuries, structural brain abnormalities, brain infections and genetic syndromes.

The epilepsies can be classified into three classes: genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class. The genetic generalized epilepsy syndromes include juvenile myoclonic epilepsy and childhood absence epilepsy among others. Focal epilepsy syndromes include temporal lobe epilepsy, autosomal dominant nocturnal frontal lobe epilepsy and autosomal dominant epilepsy with auditory features. Epileptic encephalopathies are severe, early onset conditions characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis.

Epilepsy is often a concurrent condition in individuals with intellectual disability, autism or schizophrenia.

Genetic factors are relevant in the development of epilepsy. Most genes being implicated in epilepsy are involved in dysfunction or dysregulation of ion channels.

References:

Chang BS, Lowenstein DH (2003). “Epilepsy”. N. Engl. J. Med. 349 (13): 1257–66.
Hildebrand MS et al. Recent advances in the molecular genetics of epilepsy. J Med Genet. 2013;50:271–9.
Myers CT and Mefford hC. Advancing epilepsy genetics in the genomic era. Genome Medicine2015 7:91 

Retinoblastoma

Retinoblastoma
Sequencing of the RB1 gene

Genes
(full
coding region):
RB1

Lab method: Next generation sequencing

Price / TAT: 960 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the RB1 gene

Genes: RB1

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Testing of at-risk family members of an affected individual
4. Genetic counseling
5. Prenatal diagnosis for known familial mutation

Retinoblastoma is a malignant tumor of the developing retina that affects children, usually before the age of 5. The most common sign of retinoblastoma is a white pupillary reflex (leukocoria). Other symptoms may include strabismus, change in eye appearance, reduced visual acuity. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma, about 40% have bilateral retinoblastoma.

Hereditary retinoblastoma is inherited in an autosomal dominant pattern. Individuals with heritable retinoblastoma have a higher risk of developing non-ocular tumors.

The estimated incidence of retinoblastoma is 1 in 15 000 – 20 000 live births.

References:

Lohmann DR and Gallie BL. Retinoblastoma. GeneReviews® 2000 July 18 (Updated 2015 November 19)
Genetics Home Reference https://ghr.nlm.nih.gov.
Seregard S, et al. Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: advantages of birth cohort analysis. Ophthalmology. 2004;111:1228–32.

Dystonia NGS panel

Dystonia
NGS panel

Genes
(full
coding region):
ACTB, ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, GNAO1, HPCA, KCNMA1, KCTD17, PANK2, PLA2G6, PNKD, PRKN (PARK2), PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SLC25A1, SLC30A10, SLC39A14, SPR, TAF1, TBCE, TH, THAP1, TIMM8A, TOR1A, TUBB4A

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ATP1A3, GCH1, PRKRA, SGCE, TH, THAP1, TOR1A

Lab method: MLPA

Price / TAT: 710 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk relatives
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing repetitive movements and/or abnormal postures. Dystonic movements are typically patterned and twisting, affecting the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups. The movements may be associated with tremor.

There are a number of different forms of dystonia, and many diseases are associated with the condition. Dystonia can be classified clinically and/or etiologically by anatomic changes (nervous system pathology) and causation (inherited, acquired, or idiopathic). Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features.

Hereditary dystonias are usually inherited in an autosomal dominant manner and less commonly in an autosomal recessive or X-linked manner.

References:

Albanese A et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73.
Klein C et al. Dystonia Overview. GeneReviews® 2003 Oct 28 (Updated 2014 May 1).
Koc F and Yerdelen D. Metformin-induced paroxysmal dystonia. Neurosciences (Riyadh). 2008 Apr;13(2):194-5.

Parkinson Disease NGS panel

Parkinson’s Disease
NGS panel

Genes
(full
coding region):
ADH1C, ATP1A3, ATP13A2, ATP6AP2, ATXN2, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PRKN, PRKRA, SLC6A3, SLC30A10, SNCA, SNCB, SPR, SYNJ1, TAF1, TBP (excluding exon 3), TH, UCHL1, VPS35

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Order here

or download sample submission form


Deletion/duplication analysis

Genes: GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1

Lab method: MLPA

Price / TAT: 710 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Order here

or download sample submission form


Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Genetic counseling

Parkinson’s disease (PD) is a progressive neurodegenerative disorder mainly affecting the motor system. PD is characterized by tremor, rigidity, bradykinesia, poor balance, and difficulty with walking. Non-motor findings include insomnia, depression, anxiety, behavioral problems, at a later stage of the disease psychosis and dementia may occur.

PD is most commonly a non-Mendelian disorder resulting from the effects of multiple genes as well as environmental risk factors. Mendelian forms of PD are inherited in an autosomal dominant, autosomal recessive, or, rarely, X-linked manner. The most common sporadic form of PD manifests around age 60, however, young-onset and juvenile-onset are seen.

References:

Davie CA. A review of Parkinson’s disease. 2008. Br. Med. Bull. 86 (1): 109–27.
Farlow J et al. Parkinson Disease Overview. GeneReviews® 2004 May 25 (Updated 2014 Feb 27).

Frontotemporal Dementia NGS panel

Frontotemporal Dementia
NGS panel

Genes
(full
coding region):
CHMP2B, GRN, MAPT, TARDBP, PSEN1

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: CRHR1, GRN, MAPT

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Testing of at-risk asymptomatic adults
4. Genetic counseling

Frontotemporal dementia (FTD) is a degenerative condition characterized by progressive neuronal loss in the temporal and frontal lobes of the brain. Clinical presentations may include behavioral changes, language disturbances, aphasia, extrapyramidal signs, rigidity, bradykinesia, supranuclear palsy, saccadic eye movement disorders, and mutism.

FTD usually occurs between ages 40 and 60 years, but may appear earlier or later. Most individuals diagnosed with the disorder have had an affected parent with the clinical symptoms of frontotemporal dementia. FTD is inherited in an autosomal dominant manner.

References:

Cardarelli R et al. Frontotemporal dementia: a review for primary care physicians. Am Fam Physician. 2010 Dec 1;82(11):1372-7.
Harms MM et al. TARDBP-Related Amyotrophic Lateral Sclerosis. GeneReviews® 2009 April 23 (Updated 2015 March 12).
Hsiung G-YR and Feldman HH. GRN-Related Frontotemporal Dementia. GeneReviews® 2007 Sept 7 (Updated 2013 March 14).
Van Swieten JC et al. MAPT-Related Disorders. GeneReviews® 2000 Nov 7 (Updated 2010 Oct 26).

Hypertrophic Cardiomyopathy NGS panel

Hypertrophic Cardiomyopathy
NGS panel

Genes
(full
coding region):
ACTC1, ACTN2, AGK, ANKRD1, CALR3, CAV3, CRYAB, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, RAF1, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: MYBPC3, MYH7, TNNT2

Lab method: MLPA

Price / TAT: 806 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Determination of differential diagnosis
  3. Testing of at-risk family members
  4. Genetic counseling

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of left ventricular hypertrophy (LVH) that is not solely explained by abnormal loading conditions. HCM is a significant cause of sudden cardiac death in competitive athletes. The clinical features of HCM are highly variable ranging from asymptomatic LVH to arrhythmias, to refractory heart failure. The symptoms include shortness of breath, orthostasis, presyncope, syncope, palpitations, and chest pain.

The prevalence in the general population is estimated at 1/500.

HCM is most commonly caused by mutations in one of the genes that encode different components of the sarcomere and is inherited in an autosomal dominant manner. In 3–5% of the cases affected individuals carry two mutations in the same gene (compound heterozygous or homozygous), or in different genes (digenic). This is associated with a more severe phenotype with younger age of onset and more adverse events.

References:

Cirino AL and Ho C. Hypertrophic Cardiomyopathy Overview. GeneReviews®. 2008 August 5 (Updated 2014 Jan 16) 
Elliott PM et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. European Heart Journal (2014) 35, 2733–2779.
Maron BJ. Sudden death in young athletes. N Engl J Med. 2003;349:1064–75.
Richard P et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.
Richard P et al. Homozygotes for a R869G mutation in the beta-myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32: 1575–1583.

Hereditary Spastic Paraplegia NGS panel

Hereditary Spastic Paraplegia NGS panel

Genes
(full
coding region):
ATL1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, B4GALNT1, BSCL2, CYP7B1, CYP2U1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, RTN2, SLC16A2, SPAST, SPG7, SPG11, SPG20, SPG21, TECPR2, VPS37A, WASHC5, ZFYVE26

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Targeted mutation analysis

Genes: MT-ATP6

No of
detectable
markers:
1 (m.9176T>C)

Lab method: Sanger sequencing

Price / TAT: 87 EUR / 1-2 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

120 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ATL1, NIPA1, SPAST, SPG7, REEP1

Lab method: MLPA

Price / TAT: 806 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Carrier status detection of known mutation
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling

Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.

HSP is classified as uncomplicated, or pure, when only spinal involvement occurs, and is classified as complicated when accompanied by other system involvement or other neurologic findings such as ataxia, seizures, intellectual disability, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy.

HSP can be inherited in an autosomal dominant, autosomal recessive, x-linked recessive or maternally inherited (mitochondrial) manner.

The prevalence of all hereditary spastic paraplegias is estimated to be 2 to 6 in 100,000 people worldwide.

References:

Fink JK. Hereditary Spastic Paraplegia Overview. GeneReviews® 2000 Aug 15 (Updated 2014 Feb 6)
National Institute of Health 2008. Hereditary Spastic Paraplegia Information Page.
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8.

Usher Syndrome NGS panel

Usher Syndrome
NGS panel

Genes
(full
coding
region):
ABHD12, ADGRV1 (GPR98), CDH23, CIB2, CLRN1, COL4A6, DSPP (excluding exon 5), GIPC3, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G, WHRN (DFNB31)

List of diseases covered by the panel


Price / TAT: 1051 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
SThe A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Targeted regions sequencing

Genes
(targeted
regions):
ADGRV1 (GPR98), CDH23, CLRN1, MYO7A, PCDH15, USH2A, USH1C, USH1G, WHRN (DFNB31)

Lab method: Next generation sequencing

Price / TAT: 450 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

6 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: USH2A, PCDH15

Lab method: MLPA

Price / TAT: USH2A gene – 590 EUR / 4-6 weeks
PCDH15 gene – 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation

Usher syndrome is a combination of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Usher syndrome represents 50% of all cases with deafness and blindness. Usher syndrome is inherited in an autosomal recessive manner. Three major clinical types can be distinguished. Usher syndrome type I (USH1) is characterized by severe to profound congenital hearing loss, RP and vestibular areflexia. Patients with Usher syndrome type II (USH2) have moderate to severe hearing loss, RP and normal or variable vestibular function. Patients with Usher syndrome type III (USH3) have progressive hearing loss, RP and variable vestibular function.

Waardenburg Syndrome NGS panel

Waardenburg Syndrome
NGS panel

Genes
(full
coding region):
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

List of diseases covered by the panel


Price / TAT: 1030 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
SThe A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: MITF, PAX3, SOX10

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk relatives
  3. Genetic counseling

Waardenburg syndrome (WS) is a group of genetic conditions characterized by sensorineural hearing loss and pigmentary abnormalities of the iris, hair, and skin, along with dystopia canthorum. Hearing loss is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural.

The classic sign of hair pigmentation anomaly with WS is white forelock appearing typically in the teen years. Ocular pigmentary manifestations may include complete or segmental heterochromia or hypoplastic or brilliant blue irides.

Waardenburg syndrome affects an estimated 1 in 20,000-40,000 people.

Four types of WS can be distinguished by physical characteristics and genetic cause. Types I and III are inherited in an autosomal dominant manner, types II and IV are autosomal recessive.

References:

Farrer LA et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet. 1992;50:902–13.
Milunsky JM. Waardenburg Syndrome Type I. GeneReviews® 2001 July 30 (Updated 2014 Aug 7)
Shields CL et al. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. JAMA Ophthalmol. 2013;131:1167–73.
Tamayo ML et al. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. Am J Med Genet A. 2008;146A:1026–31.

Treacher Collins Syndrome NGS panel

Treacher Collins Syndrome
NGS panel

Genes
(full
coding region):
POLR1C, POLR1D, TCOF1

Price / TAT: 1030 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the TCOF1 gene

Genes: TCOF1

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk family members
  3. Genetic counseling

Treacher Collins syndrome (TCS) is a congenital disorder characterized by craniofacial deformities, external ear abnormalities, and eye anomalies. The most characteristic features of TCS are micrognathia, conductive hearing loss, coloboma of the lower eyelid, and absence of the lower eyelashes. Less common signs include cleft palate and unilateral or bilateral choanal stenosis or atresia.

TCS affects an estimated 1 in 50,000 people. The disorder has an autosomal dominant pattern of inheritance. Approximately 1% of TCS is inherited in an autosomal recessive manner.

References:

Chiara C et al. Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome. 2011. Medical Genetics 12.
Katsanis SH and Jabs EW. Treacher Collins Syndrome. GeneReviews®. 2004 July 20 (Updated 2012 Aug 30)
Trainor PA et al. Treacher Collins syndrome: etiology, pathogenesis and prevention. 2008. European Journal of Human Genetics 17 (3): 275–283.

Stickler Syndrome NGS panel

Stickler Syndrome
NGS panel

Genes
(full
coding region):
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2

List of diseases covered by the panel


Price / TAT: 1030 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the COL11A1 gene

Genes: COL11A1

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk family members
  3. Genetic counseling

Stickler syndrome is a group of hereditary conditions affecting connective tissue. Stickler syndrome is characterized by ocular findings, distinctive facial abnormalities, hearing loss, skeletal abnormalities, and joint problems.

Eye findings may include high myopia, cataract, vitreoretinal or chorioretinal degeneration, and retinal detachment. Hearing loss can be both conductive and sensorineural. Affected individuals have a characteristic flattened facial appearance caused by midfacial underdevelopment and cleft palate.

Stickler syndrome is inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome affects approximately 7,500 to 9,000 newborns.

References:

Annunen S et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 1999. Am J Hum Genet 65 (4): 974–83.
Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52.
Robin NH et al. Stickler Syndrome. GeneReviews® 2000 June 9 (Updated 2014 Nov 26)

Branchiootorenal Syndrome NGS panel

Branchiootorenal Syndrome
NGS panel

Genes
(full
coding region):
EYA1, SIX1, SIX5

Price / TAT: 1288 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the EYA1 gene

Genes: EYA1

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Genetic counseling
  3. Prenatal diagnosis for known familial mutation

Branchiootorenal (BOR) syndrome is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial arch anomalies (branchial clefts, fistulae, cysts), and renal abnormalities. Renal malformations may include urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts. In some cases, end-stage renal disease develops later in life.

BOR manifests wide clinical heterogeneity between affected individuals. Estimated prevalence of the disease is 1/40,000.

BOR syndrome is transmitted in an autosomal dominant manner.

References:

Fraser FC et al. Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss and renal anomalie. Am J Med Genet1978; 2: 241–252
Melnick M et al. Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: two distinct autosomal dominant disorders. Clin Genet1978; 13: 425–442
Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews® 1999 March 19 (Updated 2013 June 20)

Pendred Syndrome

Pendred Syndrome
Sequencing of the SLC26A4
gene

Genes: SLC26A4

Lab method: Sanger sequencing

Price / TAT: 773 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the SLC26A4 gene

Genes: SLC26A4

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier status detection of known mutation
  3. Genetic counseling

Pendred syndrome is an autosomal recessive condition characterized by bilateral sensorineural hearing impairment, vestibular and cochlear abnormalities, temporal bone abnormalities and goiter. Considerable phenotypic variability is found even within the same family. Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.

Pendred syndrome, as well as nonsyndromic hearing loss and deafness (DFNB4) show similar phenotypic spectrum. DFNB4 is characterized by nonsyndromic sensorineural hearing loss, vestibular dysfunction, enlarged vestibular aqueduct but normal thyroid function.

For further information:

Alasti F et al. Pendred Syndrome/DFNB4. GeneReviews® 1998 Sept 28 (Updated 2014 May 29)
Napiontek U et al. Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab. 2004;89:5347–51.
Reardon W, Trembath RC: Pendred syndrome. J Med Genet 1996; 33: 1037–40.
Stinckens C et al. Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. Int J Pediatr Otorhinolaryngol. 2001;61:207–15.

Alport Syndrome NGS panel

Alport Syndrome
NGS panel

Genes
(full
coding
region):
COL4A3, COL4A4, COL4A5

Price / TAT: 1030 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the COL4A5 gene

Genes: COL4A5

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk relatives
  3. Genetic counseling
  4. Prenatal diagnosis for known familial mutation

Alport syndrome is characterized by renal, cochlear, and ocular involvement. The main manifestation is glomerular nephropathy with hematuria, progressing to end-stage renal disease. Eye abnormalities include anterior lenticonus, maculopathy, corneal endothelial vesicles, and recurrent corneal erosion. The hearing loss develops gradually and is usually detectable during late childhood or early adolescence.

Prevalence of Alport syndrome is estimated at 1/50 000.

Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The disease is known to be inherited in an X-linked, autosomal recessive or autosomal dominant pattern.

References:

Clifford EK. Alport Syndrome and Thin Basement Membrane Nephropathy. GeneReviews® 2001 Aug 28 (Updated 2013 Feb 28)
Hertz JM et al. Clinical utility gene card for: Alport syndrome. European Journal of Human Genetics. 2012. 20 doi:10.1038/ejhg.2011.237 (Updated 2014 Nov 12)

Wilson Disease

Wilson Disease
Sequencing of the ATP7B gene

Genes: ATP7B

Lab method: Sanger sequencing

Price / TAT: 773 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,3 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the ATP7B gene

Genes: ATP7B

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

Wilson disease (WD) is an autosomal recessive inherited disorder characterized by the toxic accumulation of copper in various organs including the liver, the cornea and the brain, causing damage therein. The disorder usually manifests in the second decade of life and the hepatic form usually appears earlier than the neurological form. Wilson disease is caused by mutations in the ATP7B gene.

Mitochondrial Diseases

Mitochondrial Diseases
Mitochondrial genome sequencing

Lab method: Next generation sequencing
Heteroplasmy less than 20% is not detectable by sequencing.

Price / TAT: 803 EUR / 2-4 weeks

Discount of 10% on the total price for ordering more than one type of test on the same sample.


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

50-75 mg fresh frozen tissue (in case suspected mtDNA mutations may not be detected in DNA extracted from blood)
Tissue should be frozen immediately at collection, stored at -80°C and shipped on dry ice.


Ordering information: Go to online ordering or download sample submission form

Nuclear genes NGS panel

Genes
(full
coding region):
AARS2, ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, AFG3L2, AIFM1, ALAS2, APTX, ATPAF2, ATP5F1E, AUH, BCS1L, BOLA3, C12orf65, CISD2, COA5, COQ2, COQ6, COQ9, COQ8A, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FBP1, FH, FOXRED1, G6PC, GAMT, GATM, GFER, GFM1, GYS2, HARS2, HLCS, HADH, HADHA, HSPD1, ISCU, LRPPRC, MFN2, MPV17, MRPS16, MRPS22, MTFMT, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, POLG, POLG2, PUS1, RARS2, REEP1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SETX, SLC19A3, SLC25A20, SLC25A3, SLC25A4, SLC6A8, SLC37A4, SOD1, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCRB, UQCRQ, WFS1, YARS2

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Discount of 10% on the total price for ordering more than one type of test on the same sample.


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Single gene sequencing

Genes: ACADS, ACADVL

Lab method: Sanger sequencing, next generation sequencing

Price / TAT: ACADS gene – 515 EUR / 2-4 weeks
ACADVL gene – 803 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

MELAS Syndrome targeted mutation analysis

Genes: MT-TL1

No of
detectable
markers:
1 (m.3243A>G)

Lab method: Sanger sequencing

Price / TAT: 87 EUR / 1-2 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

120 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ACADVL, DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK

Lab method: MLPA

Price / TAT: 710 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Diagnosis of patients with phenotype characteristic for mitochondrial disease
2. Diagnosis of patients with family history suggestive for mitochondrial disease
3. Genetic counseling of individuals with mitochondrial disease and affected family members

Mitochondrial diseases are a genetically and clinically heterogeneous group of disorders that arise as a consequence of dysfunction of the mitochondrial respiratory chain. The estimate for the prevalence of all mitochondrial disorders 1:8500, but they are thought to be greatly under-diagnosed. Mitochondrial disorders can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). If nuclear gene defects may be inherited in an autosomal recessive or autosomal dominant manner, mtDNA defects are transmitted only maternally. As the female could have heteroplasmic mtDNA mutations, which could be transmitted unequally to her offspring, the sibs could exhibit considerable clinical variability.

Symptoms of the mitochondrial disease can begin at any age. Mitochondrial disorders may affect a single organ (e.g. Leber hereditary optic neuropathy, LHON) or involve multiple organ systems (e.g. Myoclonic epilepsy with ragged-red fibers, MERRF). Common clinical features of mitochondrial disorder include, for example muscle weakness, exercise intolerance, trouble with balance and coordination, sensorineural deafness, impaired vision, seizures and learning deficits, cardiomyopathy, diabetes mellitus, stunted growth, and a high incidence of mid- and late pregnancy loss.

References:

Wallace DC. Mitochondrial diseases in man and mouse. Science. 1999;283:1482–8.
Chinnery PF. Mitochondrial Disorders Overview. Pagon RA, Adam MP, Bird TD, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2013.
DiMauro S, Schon EA. Nuclear power and mitochondrial disease. Nat Genet. 1998;19:214–5.
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet. 2000a;355:299–304.
Leonard JV, Schapira AVH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet. 2000b;355:389–94.