| Genes (full coding region): |
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ALG8 | Polycystic liver disease 3 with or without kidney cysts; Congenital disorder of glycosylation, type Ih |
| ANKS6 | Nephronophthisis 16 |
| BICC1 | Renal dysplasia, cystic, susceptibility to |
| COL4A1 | Retinal arteries, tortuosity of; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to |
| DNAJB11 | Polycystic kidney disease 6 with or without polycystic liver disease |
| DZIP1L | Polycystic kidney disease 5 |
| GANAB | Polycystic kidney disease 3 |
| HNF1B | Renal cysts and diabetes syndrome; Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma |
| LRP5 | Exudative vitreoretinopathy 4; Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome; Polycystic liver disease 4 with or without kidney cysts; van Buchem disease, type 2 |
| MUC1 | Medullary cystic kidney disease 1 |
| NOTCH2 | Alagille syndrome 2; Hajdu-Cheney syndrome |
| OFD1 | Retinitis pigmentosa 23; Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 |
| PKD1 | Polycystic kidney disease 1 |
| PKD2 | Polycystic kidney disease 2 |
| PKHD1 | Polycystic kidney disease 4, with or without hepatic disease |
| PRKCSH | Polycystic liver disease 1 |
| SEC63 | Polycystic liver disease 2 |
| SEC61A1 | Hyperuricemic nephropathy, familial juvenile, 4 |
| TSC1 | Lymphangioleiomyomatosis; Tuberous sclerosis-1 |
| TSC2 | Tuberous sclerosis-2 |
| UMOD | Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Hyperuricemic nephropathy, familial juvenile 1; Medullary cystic kidney disease 2 |
| VHL | Erythrocytosis, familial, 2; Pheochromocytoma; von Hippel-Lindau syndrome |
| ZNF423 | Nephronophthisis 14 |
| Genes (full coding region): |
ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, SEC61A1, TSC1, TSC2, UMOD, VHL, ZNF423 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ANKS6 | Nephronophthisis 16 |
| CEP83 | Nephronophthisis 18 |
| CEP164 | Nephronophthisis 15 |
| CEP290 | Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 |
| DCDC2 | Nephronophthisis 19; Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal |
| GLIS2 | Nephronophthisis 7 |
| INVS | Nephronophthisis 2, infantile |
| IFT172 | Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydactyly |
| IQCB1 | Senior-Loken syndrome 5 |
| NEK8 | Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| NPHP3 | Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Senior-Loken syndrome 4 |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
| SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
| TMEM67 | RHYNS syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11 |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13; Short-rib thoracic dysplasia 5 with or without polydactyly; Cranioectodermal dysplasia 4 |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 |
| ZNF423 | Joubert syndrome 19 |
| Genes (full coding region): |
ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C2ORF71, C5ORF42, C8ORF37, C21ORF2, C21ORF59, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFTR, CLRN1, CRB1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS8, GDF1, GLIS2, IFT43, IFT80, IFT122, IFT140, IFT172, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LEFTY2, LRRC6, MCIDAS, MKKS, MKS1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD2, PKHD1, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, IFT27, IFT172, LZTFL1, MKKS, MKS1, SDCCAG, TMEM67, TRIM32, TTC8, WDPCP |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MITF, PAX3, SOX10 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
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.
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.
| Genes (full coding region): |
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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ANO5, CAPN3, DYSF, FKRP, LCAV3, MNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
TSC1, TSC2 |
| Lab method: | NGS panel |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | TSC1, TSC2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ABCD1, ASPA, L2HGDH, LMNB1, MLC1, NOTCH3, PLP1 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MTM1, MTMR1 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC7A7, SLC25A13, SLC25A15 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | OTC |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ALAD, CPOX, FECH, HMBS, PPOX, UROD, UROS |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ABCD4, ACSF3, AMN, CBLIF, CBS, CD320, CUBN, IVD, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN1, TCN2 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MLYCD |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | GLA, HEXA, IDS, NPC1, NPC2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | SLC22A5 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
LPL |
| Lab method: | Sanger sequencing |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | LPL |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| 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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | BAG3, TNNT2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
CDK4, CDKN2A, MITF |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | CDK4, CDKN2A, CDKN2B, MITF |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | AR |
| Lab method: | Sanger sequencing |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | AR |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
CTNNA3, DES, DSC2, DSG2, DSP, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | DSP, PKP2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | HBA1, HBA2 |
| No of detectable markers: |
7 deletions |
| Lab method: | PCR |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | HBA1, HBA2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | HBB |
| Lab method: | Sanger sequencing |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | HBB |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | FANCA, FANCB, FANCD2, PALB2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, TWIST1 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | TWIST1 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP11, TWIST1, WNT5A |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | COL2A1, TWIST1 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
APC, CDC73, DICER1, MEN1, PRKAR1A, PTEN, RET, SDHB, SDHD, TP53 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MEN1, SDHB, SDHC, SDHD |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | FANCA, FANCB, FANCD2, PALB2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ACVRL1, BMPR2, BMPR1B, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ACVRL1, BMPR2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ATP13A2, COASY, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | PANK2, PLA2G6 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
AARS, ABAT, ACY1, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG3, ALG13, ARHGEF9, ARHGEF15, ARX, ASAH1, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CACNA1D, CACNA2D2, CACNA1H, CACNB4, CASK, CDC42, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLN3, CLN8, CNTN2, CNTNAP2, C12orf57, CPA6, CRH, CSTB, CTSF, DEPDC5, DHFR, DNAJC5, DNM1, DNM1L, DOCK7, DYRK1A, EEF1A2, EFHC1, EPM2A, FGF12, FLNA, FOLR1, FOXG1, GABBR2, GABRA1, GABRB1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, HUWE1, IER3IP1, ITPA, IQSEC2, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1A, KIF5C, LGI1, LIAS, MBD5, MCCC1, MDH2, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NACC1, NECAP1, NEXMIF, NGLY1, NHLRC1, NOL3, NPRL2, NR2F1, NRXN1, PCDH19, PIK3R2, PIGA, PIGN, PIGO, PIGT, PLCB1, PLPBP, PNKP, PNPO, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRRT2, PURA, QARS, RBFOX1, RBFOX3, RELN, ROGDI, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, SLC1A2, SLC12A5, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNIP1, SNX27, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TBC1D24, TBCK, TCF4, TPP1, TSC1, TSC2, TUBB3, UBA5, UBE3A, WDR45, WWOX, ZDHHC9, ZEB2 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1, PCDH19, SCN1A, SLC2A1, STXBP1, WWOX |
| Lab method: | MLPA |
| TAT: | 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 |
| 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
| 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| 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 |
| 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.
| Genes (full coding region): |
ACTB, ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, GNAO1, HPCA, KCNMA1, KCTD17, MECR, PANK2, PLA2G6, PNKD, PRKN (PARK2), PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SLC25A1, SLC30A10, SLC39A14, SPR, TAF1, TBCE, TH, THAP1, TIMM8A, TOR1A, TUBB4A |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ATP1A3, GCH1, PRKRA, SGCE, TH, THAP1, TOR1A |
| Lab method: | MLPA |
| TAT: | 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 |
| 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.
| Genes (full coding region): |
ADH1C, ATP1A3, ATP13A2, ATP6AP2, ATXN2, CHCHD2, DCTN1, DNAJC6, DNAJC13, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PODXL, PRKN, PRKRA, PTRHD1, RAB39B, SLC6A3, SLC30A10, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TBP (excluding exon 3), TH, TMEM230, UCHL1, VPS35, VPS13C |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Order here
or download sample submission form |
| Genes: | GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1 |
| Lab method: | MLPA |
| TAT: | 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 |
| 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).
| Genes (full coding region): |
ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SORL1, TARDBP, TBK1, TREM2, TUBA4A, UBE3A, UBQLN2, VCP List of diseases covered by the panel |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | CRHR1, GRN, MAPT |
| Lab method: | MLPA |
| TAT: | 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 |
| 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).
| 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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MYBPC3, MYH7, TNNT2 |
| Lab method: | MLPA |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
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.
| 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 |
| Lab method: | NGS panel
NGS panel with CNV |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | MT-ATP6 |
| No of detectable markers: |
1 (m.9176T>C) |
| Lab method: | Sanger sequencing |
| TAT: | 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 |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ATL1, NIPA1, SPAST, SPG7, REEP1 |
| Lab method: | MLPA |
| TAT: | 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 |
| 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.