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Single-gene diagnostics
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Single-gene diagnostics

 

Please click here for array-CGH diagnostics.

Turn-around-time depends on the number and size of the requested genes and varies from a few days to a maximum of six weeks. In urgent cases, we will analyze even very large genes within days.

For some disorders and gene loci, we offer the analysis of microsatellite markers. Please contact us if you are interested in this type of analysis.

The secretariat (Tel. +49 221 478-86811, A. Neke) will inform you who from our lab is the contact person for a specific diagnostic offer. Alternatively, you can get this piece of information from our request form.

 

 

Neuromuscular disorders
disease gene OMIM method
Amyotrophic lateral sclerosis,
familial

ALS2

FUS

SOD1

TARDBP

VABP

606352

137070

147450

605078

605704

sequencing
other diagnostics
(upon inquiry)
Distal arthrogryposis
dominant

MYBPC1

MYH3

MYH8

TNNI2

TNNT3

TPM2

PIEZO2

160794

160720

160741

191043

600692

190990

613629

sequencing
Fetal akinesia,
congenital myasthenia,
rezcessive

RAPSN

CHRNA1

CHRND

CHRNG

CHRNE

DOK7

MUSK

COLQ

601592

100690

100720

100730

100725

610285

601296

603033

sequencing
other diagnostics
(upon inquiry)
Pontocerebellar hypoplasia,
recessive

CASK

TSEN2

TSEN34

TSEN54

RARS2

300172

608753

608754

608755

611524

sequencing
Pontocerebellar hypoplasia,
dominant
SEPSECS 613009 sequencing
Spinal muscular atrophy,
recessive

SMN1

SMN2

600354

601627

sequencing

mikrosatellites

MLPA

Spinal muscular atrophy,
dominant

BICD2

TRPV4

609797

605427

sequencing
Spinal muscular atrophy
with respiratory distress,
recessive
IGHMBP2 600502

sequencing

MLPA

Spinal muscular atrophy,
X-chromosomal
UBA1 314370 sequencing

top

Muscular disorders
disease gene OMIM method
Congenital myopathy,
dominant / recessive

ACTA1

MYH7

SEPN1

MEGF10

102610

606210

160760

612453

sequencing
Duchenne muscular dystrophy,
X-recessive
DMD 300377
sequencing
MLPA
Muscular dystrophy,
Dystroglycanopathy,
recessive

ANO5

B3GALNT2

B3GNT1

CAPN3

CAV3

DYSF

FKRP

FKTN

GMPPB

ISPD

LARGE

POMGNT1

POMGNT2

POMK

POMT1

POMT2

TMEM5

608662

610194

605517

601253

604139

603009

606596

607440

615320

614631

603590

606822

614828

615247

607423

607439

605862

sequencing
Ullrich congenital muscular myopathy,
Bethlem myopathy,
recessive

COL6A1

COL6A2

COL6A3

120220

120240

120250

sequencing
Muscular dystrophy,
dominant

DNAJB6

LMNA

611332

150330

sequencing

top

Skeletal disorders
disease gene OMIM method
Osteogenesis imperfecta,
dominant

COL1A1

COL1A2

IFTM5

120150

120160

614757

sequencing
MLPA
Osteogenesis imperfecta,
recessive

BMP1

CRTAP

FKBP10

LEPRE1

PPIB

SEC24D

SERPINF1

SERPINH1

SP7

SPARC

TMEM38B

WNT1

112264

605497

607063

610339

123841

607186

172860

600943

606633

182120

611236

164820

sequencing

 

Osteoporosis with fractures,
X-dominant
PLS3 300131 sequencing
Hypophosphatasia,
dominant / recessive
ALPL 171760 sequencing
Bruck syndrome,
recessive
PLOD2 601865 sequencing
Juvenile osteoporosis,
dominant

LRP5

WNT1

COL1A1

COL1A2

603506

164820

120150

120160

sequencing
MLPA
Osteoporosis pseudoglioma syndrome,
recessive
LRP5 603506 sequencing
Osteopetrosis type 1,
dominant
LRP5 603506

sequencing

Cole-Carpenter syndrome,
dominant / recessive

P4HB

SEC24C

LEPRE1

176790

607185

610339

sequencing
Craniolenticulosutural dysplasia,
recessive
SEC23A 610511 sequencing

top

Kidney disorders
disease gene OMIM method
Alport syndrome,
X-dominant
COL4A5 303630 sequencing
Alport syndrome,
recessive

COL4A3

COL4A4

120070

120131

sequencing

MLPA (COL4A3, COL4A4)

Alport-like-syndrome (Fechtner syndrome),
dominant
MYH9

160775

sequencing

Cysteinuria,
recessive

SLC3A1

SLC7A9

104614

604144

sequencing

Cystinosis, recessive

CTNS

606272

sequencing

MLPA

CASR-diseases,
dominant
(hypocalciuric
hypercalcemia/hypocalcemia
with hypercalciuria)
CASR 601199 sequencing
Dent disease,
X-recessive
CLCN5 300008 sequencing

Diabetes insipidus renalis

AQP2

AVPR2

107777

300538

sequencing

Focal segmental glomerulosclerosis /FSGS

CRB2

609720

sequencing

Hypercalcemia,
recessive

CYP24A1

SLC34A1

126065

182309

sequencing

Primary hyperoxaluria,
recessive

AGXT

GRHPR

HOGA1

604285

604296

613597
sequencing
MLPA
Urinary tract malformations (CAKUT),
dominant

HNF1B

PAX2

RET

189907

167409

164761

sequencing

MLPA

Tubulointerstitial nephropathy,
(ADTKD)/MCKD,
dominant

HNF1B

REN

UMOD

189907

179820

191845

sequencing
MLPA (HNF1B)

Interstitial nephritis, karyomegalic,
recessive
FAN1

613534

sequencing

Nephronophthisis,
recessive

BBS10

NPHP1

NPHP2

NPHP3

610148

607100

602088

608002

sequencing
MLPA (NPHP1)

Renal tubular dysgenesis,
recessive

ACE

AGT

AGTR1

REN

106180

106150

106165

179820

sequencing

Nephrotic syndrome,
recessive

ADCK4

ARHGDIA

COQ2

COQ6

DGKE

LAMB2

MYO1E

NPHS1

NPHS2

PDSS2

PLCE1

PTPRO

SMARCAL1

TRPC6

WDR73

APOL1

615567

601925

609825

614647

601440

150325

601479

602716

604766

610564

608414

600579

606622

603652

616144

603743

sequencing

Nephrotic syndrome,
dominant

ACTN4

INF2

LMX1B

PAX2

TRPC6

WT1

604638

610982

602575

167409

603652

607102

sequencing

MLPA (LMX1B)

Atypical hemolytic-uremic Syndrome
(aHUS)

DGKE

MMACHC

CFH

CFB

CD46

CFI

C3

THBD

601440

609831

134370

138470

120920

217030

120700

188040

sequencing

MLPA (CFI, CD46)

Thrombotic thrombocytopenic purpura,
recessive
ADAMTS13 604134 sequening
Polycystic kidney & hepatic disease
(ARPKD/ADPKD)

PKHD1

PKD1

PKD2

GANAB

HNF1B

DZIP1L

606702

601313

173910

104160

189907

617570

sequencing
MLPA (PKD1, PKD2, HNF1B)
EAST (SESAME) syndrome,
recessive
KCNJ10 602208 sequencing
Gitelman syndrome,
recessive
SLC12A3 600968

sequencing

MLPA

Adrenal adenoma / hyperaldosteronism

KCNJ5

RMND1

CYP11B1

CYP11B2

600734

614917

610613

124080

sequencing

Hypertension and brachydactyly syndrome, dominant

PDE3A

123805

sequencing

17-alpha-hydroxylase/17,20-lyase deficiency, recessive

CYP17A1

609300

sequencing

Apparent mineralocorticoid excess, recessive

HSD11B2

614232

sequencing

Liddle syndrome,
dominant

SCNN1B

SCNN1G

600760

600761
sequencing
Pseudohypoaldosteronism,
dominant/recessive

NR3C2

CUL3

KLHL3

SCNN1A

SCNN1B

SCNN1G

WNK1

WNK4

600983

603136

605775

600228

600760

600761

605232

601844

sequencing
Polyhydramnion / transient Bartter syndrome

MAGED2

300470

sequencing

top

Tumor diseases
disease gene OMIM method
Renal cell carcinoma (RCC) /
neurocutane syndrome

FLCN

MAX

TSC1

TSC2

VHL

607273

154950

605284

191092

608537

sequencing
MLPA (not MAX)
nephroblastoma

DIS3L2

WT1

BUB1B

TRIP13

614184

607102

602860

604507

sequencing
MLPA (WT1)
Multiple endocrine neoplasia,
dominant

CDKN1B

MEN1

RET

VHL

600778

613733

164761

608537

sequencing

MLPA (VHL)
Hereditary paraganglioma-pheochromocytoma
syndrome,
dominant

MAX

RET

SDHA

SDHAF2

SDHB

SDHC

SDHD

VHL

TMEM127

154950

164761

600857

613019

185470

602413

602690

608537

613403

sequencing

MLPA (VHL, SDHB, SDHC, SDHD, SDHAF2)
Pleuropulmonary blastoma

DICER1

606241

sequencing

top

Craniofacial disorders
disease gene OMIM method
Hypochondroplasia, Achondroplasia,
dominant
FGFR3 134934 sequencing
ALSG syndrome, LADD syndrome,
dominant

FGF10

FGFR2

FGFR3

602115

 

176943

134934

 

sequencing
MLPA (FGF10)
Syndromic Craniosynostosis,
dominant

FGFR1

FGFR2

FGFR3

TWIST

136350

176943

134934

601622

sequencing
MLPA (TWIST)
Craniosynostosis type 4,
dominant
ERF 611888 sequencing
Craniosynostosis and dental anomalies,
recessive
IL11RA 600939 sequencing

top

Hearing disorders/deafness
disease gene
OMIM method
Aminoglycoside-induced deafness,
mitochondrial
MT-RNR1
(12s rRNA)
561000 sequencing
Pendred syndrome,
recessive

SLC26A4

605646 sequencing
Deafness,
recessive

DFNB1-Lokus

(GJB2 and GJB6)

121011

604418

sequencing
MLPA (GJB6,
Δ[GJB6-D13S1830],
Δ[GJB6-D13S1854])

top

Multisystem diseases
disease gene
OMIM method
Aniridia, WAGR syndrome,
dominant
PAX6 607108 sequencing
MLPA
Aortic dilatation, aortic aneurysm

ACTA2

MYH11

MYLK

102620

160745

600922

sequencing
Cystic fibrosis,
recessive
CFTR 602421 sequencing
MLPA
OLA
Ehlers-Danlos syndrome COL3A1 120180

sequencing

MLPA

Pankreatitis,
dominant
PRSS1 276000 sequencing
Marfan syndrome,
dominant
FBN1 134797 sequencing
Lipodystrophy

PPARG

601487

sequencing
Loeys-Dietz syndrome,
dominant

TGFBR1

TGFBR2

TGFB2

SMAD3

190181

190182

190220

603109

 

sequencing
MODY diabetes,
dominant

GCK

HNF1A

HNF1B

HNF4A

POMC

138079

142410

189907

600281

176830

sequencing
MLPA
(except POMC)
Methylmalonaziduria, Homocysteinuria,
recessive

CBS

MMACHC

MMADHC

613381

609831

611935

sequencing
Porphyria,
recessive
ALAD 125270 sequencing

top

Inborn errors of metabolism
disease gene OMIM method
Molybdenum cofactor deficiency,
recessive
GPHN
MOCS1
MOCS2

603930

603707

603708

sequencing
Sulfite oxidase deficiency,
recessive
SUOX 606887 sequencing

top

Kabuki syndrome and other mental retardation syndromes
disease gene
OMIM method
Kabuki syndrome,
dominant

KMT2D

KDM6A

602113

300128

sequencing,

MLPA

Coffin-Siris syndrome,
dominant

ARID1B

ARID1A

SMARCA2

SMARCA4

SMARCB1

SMARCE1

PHF6

614556

603024

600014

603254

601607

601607

300414

sequencing
MLPA (ARID1B)
PHF6 only females

 

 

 

 

 

Nicolaides-Baraitser syndrome, dominant

SMARCA2

600014

sequencing
Lesch-Nyhan syndrome

HPRT1

308000

sequencing
Cornelia de Lange Syndrome, dominant

NIPBL1

NIPBL2

608667

MLPA

top

Microcephalies
disease gene
OMIM method
Primary microcephalies,
recessive

ASPM

CASC5

CDK5RAP2

CENPJ

CEP63

CEP135

CEP152

MCPH1

PNKP

STIL

WDR62

ZNF335

605481

609173

608201

609279

614724

611423

613529

607117

605610

181590

613583

610827

sequencing
Seckel syndrome,
recessive

ATR

ATRIP

CDK5RAP2

CENPJ

CEP152

DNA2

NIN

RBBP8

601215

606605

608201

609279

613529

601810

608684

604124

sequencing

Microcephalic osteodysplastic
primordeal dwarfism type I (MOPD1),
recessive
RNU4atac 601428 sequencing
Microcephalic osteodysplastic
primordeal dwarfism type II (MOPD2),
recessive
PCNT 605925 sequencing
Nijmegen breakage syndrome,
recessive
NBN (NBS1) 602667 sequencing
Nijmegen breakage syndrome-like RAD50 604040 sequencing
LIG4-syndrome/LIG4-syndrome-like

LIG4

XRCC4

601837

194363

sequencing
Other microcephaly/dwarfism syndromes,
recessive

BRAT1

MRE11

NHEJ1

614506

600814

611290

sequencing

top

Cardiomyopathies and Noonan syndrome
disease gene
OMIM method
Hypertrophic cardiomyopathies

MYH7

MYBPC3

TNNT2

TNNI3

TPM1

160760

600958

191045

191044

191010

sequencing
Noonan syndrome

PTPN11

RIT1

176876

609591

sequencing