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Alphabetical order

Disease Gene OMIM TAT in weeks
N-acetylglutamate synthetase deficiency1 NAGS 608300 2-4
N-acetyltransferase 2 deficiency NAT2 612182 2-3
nail dysplasia, congenital FZD6 603409 3-4
Nail-Patella syndrome1,3 LMX1B 602575 3-4
NDH syndrome GLIS3 610192 2-4
neoplasia, multiple endocrine      
MEN2A RET 164761 3-4
NGS RET, MEN1, CDKN1B 4-8
type 1 MEN1 613733 3-4
type 1 MEN1 613733 3-4
type 4 CDKN1B 600778 3-4
neoplasie, multiple endocrine      
MEN2B RET 164761 3-4
neoplasm, myeloproliferative      
- CALR 109091 1-2
- JAK2, Exon 12 147796 1-2
- JAK2, Exon 14, V617F 147796 1-2
- MPL 159530 1-2
NGS JAK2, CALR, MPL, ASXL1, CBL, DNMT3A, EZH2, IDH1, IDH2, RUNX1, SF3B1, SRSF2, TET2, TP53, ZRSR2 2
Nephronophthisis1,2,3      
NPHP1 NPHP1 607100 2-5
NPHP10 SDCCAG8 613524 3-5
NPHP11 TMEM67 609884 3-5
NPHP12 TTC21B 612014 3-5
NPHP13 WDR19/IFT144 614377 3-5
NPHP16 ANKS6 615370 3-5
NPHP17 IFT172 607386 3-5
NPHP18 CEP83 615847 3-5
NPHP19 DCDC2 616217 3-5
NPHP2 INVS 243305 3-5
NPHP20 MAPKBP1 616786 3-5
NPHP3 NPHP3 608002 3-5
NPHP4 NPHP4 607215 3-5
NPHP5 IQCB1 609237 3-5
NPHP6 CEP290 610142 3-5
NPHP7 GLIS2 608539 3-5
NPHP8 RPGRIP1L 610937 3-5
NPHP9 NEK8 609799 3-5
Nephronophthisis-like Nephropathy (NPHPL1) XPNPEP3 613553 3-5
Nephropathy      
familial, juvenile, hyperuricemic REN 609213 2-4
familial, juvenile, hyperuricemic SEC61A1 609213 2-4
familial, juvenile, hyperuricemic UMOD 191845 2-4
nephrotic syndrome1,3      
- COQ2 609825 2-4
- COQ6 614647 2-4
- CUBN 602997 2-4
- GPC5 602446 2-4
- LMX1B 602575 2-4
FSGS9 CRB2 609720 2-4
Galloway-Mowat syndrome WDR73 616144 2-4
NPHS1 NPHS1 602716 2-4
NPHS2 NPHS2 604766 2-4
NPHS3 PLCE1 608414 2-4
NPHS5; Pierson syndrome LAMB2 150325 2-4
NPHS7 DGKE 615008 2-4
NPHS8 ARHGDIA 601925 2-4
Schimke immunoosseous dysplasia SMARCAL1 606622 2-4
Netherton syndrome SPINK5 605010 4-5
neuroblastoma      
NGS ALK, BARD1, BLM, CHEK2, FANCD2, GALNT14, KIF1B, NKAIN2, NME1, PALB2, PHOX2B/PMX2B, PINK1, TP53 4-8
Neurodegeneration with brain iron accumulation (NBIA)      
PLA2G6-associated neurodegeneration (PLAN) PLA2G6 603604 3-4
neurodegeneration with brain iron accumulation (NBIA)      
pantothenate kinase-associated neurodegeneration PANK2 606157, 3-4
neurofibromatosis      
NGS NF1, NF2, SMARCB1, SPRED1 613113, 607379, 601607, 609291 4-6
type 1 NF1 613113 4-6
type 2 NF2 607379 4-6
neuronal ceroid lipofuscinosis ATP13A2 610513 5-6
Neuropathy, hereditary sensory and autonomic      
Type 5 NGF 162030 3-4
Neuropathy1,3      
autosomal recessive OTOF 603681 4-6
neutropenia      
NGS ELANE, G6PC3, HAX1, JAGN1, WAS 202700, 612541, 610738, 616022, 300299 4-8
X-linked WAS 300392 4-8
severe congenital 1 ELANE/ELA2 130130 2-4
severe congenital 3 HAX1 605998 4-6
severe congenital 4 G6PC3 611045 4-8
severe congenital 6 JAGN1 616012 4-8
Niemann-Pick disease1      
NGS NPC1, NPC2 607623, 601015 4-8
type A/B SMPD1 607608 2-4
type C1 NPC1 607623 4-6
Niemann-Pick-disease1      
type C2 NPC2 601015 4-6
type C2 NPC2 601015 4-6
Night blindness, congenital stationary1,2,3      
autosomal dominant 2 PDE6B 180072 4-6
Night Blindness, congenital stationary1,3      
TYPE 1D SLC24A1 603617 3-4
X-chromosomal, type 1A NYX 300278 3-4
X-chromosomal, type 2A CACNA1F 300110 4-5
autosomal dominant, type 1 RHO 180380 4-6
autosomal dominant, type 3 GNAT1 139330 4-6
autosomal-recessive, type 1B GRM6 604096 4-5
autosomal-recessive, type 1C TRPM1 603576 4-5
autosomal-recessive, type 1E GPR179 614515 4-5
autosomal-recessive, type 1F LRIT3 615004 3-4
autosomal-recessive, type 2B CABP4 608965 4-5
Nijmegen breakage syndrome NBN 602667 4-5
non-alcoholic fatty liver disease (NAFLD) PNPLA3 999999 1-2
Non-Langerhans cell histiocytosis      
NGS NF1, NF2, CBL, NRAS, KRAS, PTPN11 4-6
Noonan syndrome1,3      
- BRAF 164757 3-4
- KRAS 190070 2-3
- PTPN11 176876 3-4
- RAF1 164760 3-4
- SOS1 182530 3-4
Norrie disease NDP 300658 2-4
North Carolina macula dystrophy      
type 2 PRDM13 616741 3-5
Nystagmus1,3      
type 1 FRMD7 300628 2-4
type 6 GPR143 300808 2-4
verschiedene Gene für NYS 999999 4-8

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ​in Ingelheim, exceptions are those marked with *, which are carried out in ​collaborating laboratories.