Senior-Loken Syndrome NGS panel

Senior-Loken Syndrome NGS panel

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

Primary Ciliary Dyskinesia NGS panel

Primary Ciliary Dyskinesia NGS panel

Genes: ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

List of diseases covered by the panel


Price / TAT: NGS: 1300 EUR / 6-9 weeks

NGS with CNV: 1700 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

List of diseases covered by Polycystic Kidney Disease NGS panel

List of diseases covered by
Polycystic Kidney Disease NGS panel

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; Schizencephaly;
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;
Renal cell carcinoma, somatic; von Hippel-Lindau syndrome
ZNF423 Nephronophthisis 14

Polycystic Kidney Disease NGS panel

Polycystic Kidney Disease NGS panel

Genes: ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, SEC61A1, TSC1, TSC2, UMOD, VHL, ZNF423

List of diseases covered by the panel


Price / TAT: NGS: 1300 EUR / 6-9 weeks

NGS with CNV: 1700 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

Nephrotic Syndrome NGS panel

Nephrotic Syndrome NGS panel

Genes: ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

List of diseases covered by Nephronophthisis NGS panel

List of diseases covered by
Nephronophthisis NGS panel

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

Nephronophthisis NGS panel

Nephronophthisis NGS panel

Genes: ANKS6, CEP83, CEP164, CEP290, DCDC2, GLIS2, INVS, IFT172, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

List of diseases covered by Hemolytic Uremic Syndrome NGS panel

List of diseases covered by
Hemolytic Uremic Syndrome NGS panel

Gene Condition
ADAMTS13 Thrombotic thrombocytopenic purpura,
familial
C3 C3 deficiency; Hemolytic uremic syndrome,
atypical, susceptibility to, 5; Macular degeneration, age-related, 9
CD46 Hemolytic uremic syndrome, atypical,
susceptibility to, 2
CFB Complement factor B deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 4;
CFH Complement factor H deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 1;
Macular degeneration, age-related, 4; Basal laminar drusen
CFHR1 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR3 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR5 Nephropathy due to CFHR5 deficiency
CFI Complement factor I deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 3;
Macular degeneration, age-related, 13, susceptibility to
DGKE Nephrotic syndrome, type 7;
Hemolytic uremic syndrome, atypical, susceptibility to, 7
THBD Thrombophilia due to thrombomodulin defect;
Hemolytic uremic syndrome, atypical, susceptibility to, 6

Ciliopathy NGS panel

Ciliopathy NGS panel

Genes: 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

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

Bardet-Biedl Syndrome NGS panel

Bardet-Biedl Syndrome NGS panel

Genes: 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

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

Asper Nephrology

Asper Nephrology

Pricing

Bardet Biedl Syndrome
Bartter Syndrome
Branchiootorenal Syndrome
Ciliopathy
Hemolytic Uremic Syndrome
Nephronophthisis
Nephrotic Syndrome
Polycystic Kidney Disease
Primary Ciliary Dyskinesia
Senior-Loken Syndrome
Whole Exome Sequencing

EMQN Certificate of Participation

Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data is also available to enhance gene identification. Pathogenic/likely pathogenic findings are confirmed using additional technologies.

Accurate diagnosis of the precise genetic cause of the renal disorder is essential for genetic counseling and prediction of risks for affected individuals; furthermore, it allows prenatal diagnosis or pre-implantation genetic diagnosis.

 

Asper Cardiogenetics updates

We now offer an NGS panel for Hereditary Hemorrhagic Telangiectasia. Additionally, Noonan Syndrome test has been upgraded to Noonan Spectrum Disorders/Rasopathies test including several new disease-causing genes. All NGS panels in Asper Cardiogenetics testing menu are covered by CNV analysis based on sequencing data. Visit https://www.asperbio.com/asper-cardiogenetics/ to learn more.

List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel

List of diseases covered by
Hereditary Hemorrhagic Telangiectasia NGS panel

Gene Condition
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2
ENG Telangiectasia, hereditary hemorrhagic, type 1
GDF2 Telangiectasia, hereditary hemorrhagic, type 5
RASA1 Capillary malformation-arteriovenous malformation 1
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Polyposis, juvenile intestinal

Hereditary Hemorrhagic Telangiectasia NGS panel

Hereditary Hemorrhagic Telangiectasia NGS panel

Genes
(full
coding region):
ACVRL1, ENG, GDF2, RASA1, SMAD4

List of diseases covered by the panel


Price / TAT: NGS: 1030 EUR / 6-9 weeks

NGS with CNV: 1400 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

 

Noonan Spectrum Disorders/Rasopathies NGS panel

Noonan Spectrum Disorders/Rasopathies NGS panel

Genes: 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

List of diseases covered by the panel


Price / TAT: NGS: 1338 EUR / 6-9 weeks

NGS with CNV: 1700 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