List of diseases covered by Male Factor Infertility NGS panel

List of diseases covered by
Male Factor Infertility NGS panel

Gene Condition
AK7 Spermatogenic failure 27
ADGRG2 Congenital bilateral absence of vas deferens, X-linked
ARMC2 Spermatogenic failure 38
AURKC Spermatogenic failure 5
BRDT Spermatogenic failure 21
CATSPER1 Spermatogenic failure 7
CFAP43 Spermatogenic failure 19
CFAP44 Spermatogenic failure 20
CFAP69 Spermatogenic failure 24
CFTR Congenital bilateral absence of vas deferens; Cystic fibrosis
DNAH1 Spermatogenic failure 18
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DPY19L2 Spermatogenic failure 9
FANCM Spermatogenic failure 28
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FSIP2 Spermatogenic failure 34
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
INSL3 Cryptorchidism
KLHL10 Spermatogenic failure 11
MEI1 Hydatidiform mole, recurrent, 3
MEIOB Spermatogenic failure 22
NANOS1 Spermatogenic failure 12
NR5A1 Spermatogenic failure 8; Adrenocortical insufficiency;
46XY sex reversal 3; 46, XX sex reversal 4
PLCZ1 Spermatogenic failure 17
PMFBP1 Spermatogenic failure 31
PPP2R3C Spermatogenic failure 36;
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
QRICH2 Spermatogenic failure 35
RNF212 Recombination rate QTL 1
SEPTIN12 Spermatogenic failure 10
SLC26A8 Spermatogenic failure 3
SOHLH1 Spermatogenic failure 32
SPATA16 Spermatogenic failure 6
SPINK2 Spermatogenic failure 29
SUN5 Spermatogenic failure 16
SYCE1 Spermatogenic failure 15
SYCP3 Spermatogenic failure 4
TAF4B Spermatogenic failure 13
TDRD9 Spermatogenic failure 30
TEX11 Spermatogenic failure, X-linked, 2
TEX14 Spermatogenic failure 23
TEX15 Spermatogenic failure 25
TSGA10 Spermatogenic failure 26
TTC21A Spermatogenic failure 37
USP9Y Spermatogenic failure, Y-linked, 2
WDR66 Spermatogenic failure 33
ZMYND15 Spermatogenic failure 14

List of diseases covered by Congenital Disorders of Glycolysation NGS panel

List of diseases covered by
Congenital Disorders of Glycolysation NGS panel

Gene Condition
ALG1 Congenital disorder of glycosylation, type Ik
ALG11 Congenital disorder of glycosylation, type Ip
ALG12 Congenital disorder of glycosylation, type Ig
ALG13 Congenital disorder of glycosylation, type Is
ALG2 Congenital disorder of glycosylation, type Ii;
Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3 Congenital disorder of glycosylation, type Id
ALG6 Congenital disorder of glycosylation, type Ic
ALG8 Congenital disorder of glycosylation, type Ih;
Polycystic liver disease 3 with or without kidney cysts
ALG9 Congenital disorder of glycosylation, type Il;
Gillessen-Kaesbach-Nishimura syndrome
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
B4GALT1 Congenital disorder of glycosylation, type IId
B3GLCT Peters-plus syndrome
COG1 Congenital disorder of glycosylation, type IIg
COG2 Congenital disorder of glycosylation, type IIq
COG4 Congenital disorder of glycosylation, type IIj;
Saul-Wilson syndrome
COG5 Congenital disorder of glycosylation, type IIi
COG6 Congenital disorder of glycosylation, type IIl;
Shaheen syndrome
COG7 Congenital disorder of glycosylation, type IIe
COG8 Congenital disorder of glycosylation, type IIh
DDOST Congenital disorder of glycosylation, type Ir
DHDDS Congenital disorder of glycosylation, type 1bb;
Developmental delay and seizures with or without movement abnormalities
DOLK Congenital disorder of glycosylation, type Im
DPAGT1 Congenital disorder of glycosylation, type Ij;
Myasthenic syndrome, congenital, 13, with tubular aggregates
DPM1 Congenital disorder of glycosylation, type Ie
DPM2 Congenital disorder of glycosylation, type Iu
DPM3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15
GMPPA Alacrima, achalasia, and mental retardation syndrome
GNE Nonaka myopathy; Sialuria
MAGT1 Congenital disorder of glycosylation, type Icc;
Immunodeficiency, X-linked, with magnesium defect,
Epstein-Barr virus infection and neoplasia
MAN1B1 Mental retardation, autosomal recessive 15
MGAT2 Congenital disorder of glycosylation, type IIa
MOGS Congenital disorder of glycosylation, type IIb
MPDU1 Congenital disorder of glycosylation, type If
MPI Congenital disorder of glycosylation, type Ib
NGLY1 Congenital disorder of deglycosylation
PGM1 Congenital disorder of glycosylation, type It
PGM3 Immunodeficiency 23
PMM2 Congenital disorder of glycosylation, type Ia
RFT1 Congenital disorder of glycosylation, type In
SEC23B Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II
SLC35A1 Congenital disorder of glycosylation, type IIf
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35C1 Congenital disorder of glycosylation, type IIc
SRD5A3 Congenital disorder of glycosylation, type Iq; Kahrizi syndrome
SSR4 Congenital disorder of glycosylation, type Iy
STT3A Congenital disorder of glycosylation, type Iw
STT3B Congenital disorder of glycosylation, type Ix
TMEM165 Congenital disorder of glycosylation, type IIk
TUSC3 Mental retardation, autosomal recessive 7

Congenital Disorders of Glycolysation NGS panel

Congenital Disorders of Glycolysation NGS panel

Genes
(full coding
region):
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, B3GLCT, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PGM3, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

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
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 Kallmann Syndrome NGS panel

List of diseases covered by
Kallmann Syndrome NGS panel

Gene Condition
ANOS1 Hypogonadotropic hypogonadism 1 with or
without anosmia (Kallmann syndrome 1)
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia
FGF17 Hypogonadotropic hypogonadism 20 with or without anosmia
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GNRHR Hypogonadotropic hypogonadism 7 without anosmia
HESX1 Growth hormone deficiency with pituitary anomalies
HS6ST1 Hypogonadotropic hypogonadism 15 with or without anosmia
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
NSMF Hypogonadotropic hypogonadism 9 with or without anosmia
POLR3B Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism
PROK2 Hypogonadotropic hypogonadism 4 with or without anosmia
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SOX10 PCWH syndrome,
Waardenburg syndrome, type 2E, with or without neurologic involvement,
Waardenburg syndrome, type 4C
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia
TAC3 Hypogonadotropic hypogonadism 10 with or without anosmia
TACR3 Hypogonadotropic hypogonadism 11 with or without anosmia
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia

Kallmann Syndrome NGS panel

Kallmann Syndrome NGS panel

Genes
(full
coding
region):
ANOS1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SOX10, SPRY4, TAC3, TACR3, WDR11

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
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

Senior-Loken Syndrome NGS panel

Senior-Loken Syndrome NGS panel

Genes
(full coding
region):
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

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
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
(full coding
region):
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


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
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;
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

Polycystic Kidney Disease NGS panel

Polycystic Kidney Disease NGS panel

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

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
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 Nephrotic Syndrome NGS panel

List of diseases covered by
Nephrotic Syndrome NGS panel

Gene Condition
ACTN4 Glomerulosclerosis, focal segmental, 1
ARHGDIA Nephrotic syndrome, type 8
COQ2 Coenzyme Q10 deficiency, primary, 1
COQ8B Nephrotic syndrome, type 9
DGKE Nephrotic syndrome, type 7
EMP2 Nephrotic syndrome, type 10
ITGA3 Interstitial lung disease, nephrotic syndrome,
and epidermolysis bullosa, congenital
LAMB2 Nephrotic syndrome, type 5,
with or without ocular abnormalities; Pierson syndrome
NPHS1 Nephrotic syndrome, type 1
NPHS2 Nephrotic syndrome, type 2
PLCE1 Nephrotic syndrome, type 3
PTPRO Nephrotic syndrome, type 6
SMARCAL1 Schimke immunoosseous dysplasia
WDR73 Galloway-Mowat syndrome 1
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome;
Nephrotic syndrome, type 4

Nephrotic Syndrome NGS panel

Nephrotic Syndrome NGS panel

Genes
(full coding
region):
ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1

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
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
(full coding
regions):
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


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
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
(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

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
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

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.

 

Brunner Syndrome

Brunner Syndrome

Genes
(full coding
region):
MAOA

Lab method: NGS

NGS 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
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 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


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
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 Prostate Cancer NGS panel

List of diseases covered by
Prostate Cancer NGS panel

Gene Condition
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8
HOXB13 Prostate cancer, hereditary, 9
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
PALB2 Fanconi anemia, complementation group N;
Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7; Glioma susceptibility 1

Prostate Cancer NGS panel

Prostate Cancer NGS panel

Genes
(full coding
region):
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, TP53

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
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 Ectopia Lentis NGS panel

List of diseases covered by Ectopia Lentis NGS panel

Gene Condition
AASS Hyperlysinemia
ADAMTS10 Weill-Marchesani syndrome 1, recessive
ADAMTS17 Weill-Marchesani 4 syndrome, recessive
ADAMTSL4 Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
ASPH Traboulsi syndrome
BCOR Microphthalmia, syndromic 2
CBS Homocystinuria, B6-responsive and nonresponsive types
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
COL18A1 Knobloch syndrome, type 1
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes;
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
FBN1 Ectopia lentis, familial; Acromicric dysplasia;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome; MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FOXC1 Anterior segment dysgenesis 3, multiple subtypes;
Axenfeld-Rieger syndrome, type 3
LTBP2 Microspherophakia and/or megalocornea,
with ectopia lentis and with or without secondary glaucoma;
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3, recessive
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia;
Coloboma of optic nerve; Coloboma, ocular
P3H2 Myopia, high,
with cataract and vitreoretinal degeneration
PORCN Focal dermal hypoplasia
SUOX Sulfite oxidase deficiency
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2

Ectopia Lentis NGS panel

Ectopia Lentis NGS panel

Genes: AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL8A2, COL18A1, CYP1B1, FBN1, FOXC1, LTBP2, PAX6, P3H2, PORCN, SUOX, VSX2

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 Waardenburg Syndrome NGS panel

List of diseases covered by
Waardenburg Syndrome NGS panel

Gene Condition
EDN3 Waardenburg syndrome, type 4B
EDNRB Waardenburg syndrome, type 4A; ABCD syndrome
MITF Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome;
Tietz albinism-deafness syndrome
PAX3 Waardenburg syndrome, type 1; Waardenburg syndrome, type 3;
Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar
SNAI2 Waardenburg syndrome, type 2D; Piebaldism
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement;
Waardenburg syndrome, type 4C; PCWH syndrome

Waardenburg Syndrome

Waardenburg Syndrome
NGS panel

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

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
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

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
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.

Tuberous Sclerosis

Tuberous Sclerosis
NGS panel

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
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

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
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 Palmoplantar Keratoderma NGS panel

List of diseases covered by Palmoplantar Keratoderma NGS panel

Gene Condition
AAGAB Keratoderma, palmoplantar, punctate type IA
AQP5 Palmoplantar keratoderma, Bothnian type
DSG1 Keratosis palmoplantaris striata I, AD;
Erythroderma, congenital, with palmoplantar keratoderma,
hypotrichosis, and hyper IgE
KRT1 Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III
KRT9 Palmoplantar keratoderma, epidermolytic
KRT10 Epidermolytic hyperkeratosis;
Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis
KRT16 Pachyonychia congenita 1;
Palmoplantar keratoderma, nonepidermolytic, focal
KRT6C Palmoplantar keratoderma, nonepidermolytic,
focal or diffuse
SERPINB7 Palmoplantar keratoderma, Nagashima type
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
TRPV3 Olmsted syndrome; Palmoplantar keratoderma, nonepidermolytic, focal 2

Palmoplantar Keratoderma NGS panel

Palmoplantar Keratoderma NGS panel

Genes
(full coding
region):
AAGAB, AQP5, DSG1, KRT1, KRT9, KRT10, KRT16, KRT6C, SERPINB7, SNAP29, TRPV3

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
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 Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

List of diseases covered by
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
OCA2 Albinism, oculocutaneous, type II
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Genes
(full
coding region):
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

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
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: GPR143, OCA2, TYR

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
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

Neurofibromatosis NGS panel

Neurofibromatosis NGS panel

Genes:
(full coding
region)
NF1, NF2, SMARCB1, 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
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 

Melanoma
NGS panel

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
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

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
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

Ichthyosis NGS panel

Ichthyosis NGS panel

Genes
(full
coding region):
ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, CDSN, CERS3, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT2, KRT9, KRT10, LIPN, LOR, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5

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
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 Hypotrichosis NGS panel

List of diseases covered by Hypotrichosis NGS panel

Gene Condition
APCDD1 Hypotrichosis 1
CDSN Hypotrichosis 2; Peeling skin syndrome 1
DSG4 Hypotrichosis 6
HR Hypotrichosis 4; Alopecia universalis;
Atrichia with papular lesions
KRT71 Hypotrichosis 13
KRT74 Hypotrichosis 3; Woolly hair, autosomal dominant;
Ectodermal dysplasia 7, hair/nail type
LIPH Hypotrichosis 7
LPAR6 Hypotrichosis 8;
RPL21 Hypotrichosis 12
SNRPE Hypotrichosis 11

List of diseases covered by Hermansky-Pudlak Syndrome NGS panel

List of diseases covered by
Hermansky-Pudlak Syndrome NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6

Hermansky-Pudlak Syndrome NGS panel

Hermansky-Pudlak Syndrome NGS panel

Genes
(full coding
region):
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

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
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