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Alphabetical order

Disease Gene OMIM TAT in weeks
P450 oxidoreductase deficiency* POR 124015 2-4
Pachyonychia congenita1      
NGS KRT16, KRT17, KRT6A, KRT6B, KRT6C 4-8
palmoplantar keratoderma1      
NGS AAGAB, DSG1, GJA1, KANK2, KRT1, KRT16, KRT6C, KRT9, MBPTPS2, SERPINB7, TRPV3 139350, 607606, 125670, 614888, 148067 4-8
pancreatic cancer, familial      
NGS BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 4-8
pancreatitis, hereditary      
pancreatitis, hereditary PRSS1 276000 3-4
pancreatitis, hereditary SPINK1 167790 3-4
paramyotonia congenita SCN4A 603967 3-5
Parkinson disease1      
Parkinson disease LRRK2 609007 4-8
Parkinson disease diverse 999999 4-8
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 2-3
paroxysmal dyskinesia ADCY5, PRRT2, SLC2A1, SCN8A, KCNMA1, PNKD 4-8
paroxysmal nocturnal hemoglobinuria      
paroxysmal nocturnal hemoglobinuria PIGA 311770 2-4
paroxysmal nocturnal hemoglobinuria PIGA, PIGT 2-4
Pelizeus Merzbacher Disease PLP1 300401 2-3
Pena-Shokeir Syndrome      
Type 2 ERCC6 609413 3-4
Pendred Syndrom1,2,3      
- SLC26A4 605646 2-4
Pendred Syndrome1,3      
- FOXI1 601093 4-5
periventricular heterotopia FLNA 300017 4-6
Perlman syndrome DIS3L2 614184 2-4
Perrault syndrome1,3      
autosomale recessive HARS2 600783 2-4
autosomale recessive HSD17B4 601860 3-4
type 3 CLPP 601119 3-4
type 4 LARS2 604544 3-4
CLPP; HARS2, HSD27B4, LARS2 999999 4-8
Persistent hyperplastic primary vitreous ATOH7 609875 2-4
persistent Mullerian duct syndrome      
- AMHR2 600957 2-3
- AMH 600957 2-3
Peters anomaly1,3      
- CYP1B1 601771 2-4
- PAX6 607108 2-4
- PITX2 601542 2-4
glaucoma 1A MYOC 601652 2-4
Peters-plus syndrome B3GLCT 610308 2-4
Peutz-Jeghers syndrome      
- STK11 602216 4-8
Pfeiffer syndrome      
- FGFR2 176943 1-2
phenylketonuria* PAH 612349 2-4
pheochromocytoma-paraganglioma syndrome      
, SDHD 602690 3-4
NGS SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX 4-8
pheochromocytoma-paraganglioma, hereditary      
NGS FH, GDNF, KIF1B, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, VHL, MEN1, TSC1, TSC2 4-8
piebaldism1,3 SNAI2 602150 3-4
Pierson syndrome LAMB2 150325 2-4
Pituitary hormone deficiency, combined1,3      
MLPA GHRHR, LHX3, POU1F1, PROP1, LHX4, GH1, HESX1 139191, 600577, 173110, 601538, 602146, 139250 und 601802 2-4
NGS GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SHH, 4-8
type 1 POU1F1 173110 2-4
type 1 POU1F1 173110 2-4
type 2 PROP1 601538 2-4
type 2 PROP1 601538 2-4
type 3 LHX3 600577 2-4
type 4 LHX4 602146 2-4
type 5 HESX1 601802 2-4
PKD1/TSC2 microdeletion syndrome TSC2, PKD1 601313, 191092 2-3
plasminogen activator inhibitor type 1 deficiency PAI1 173360 1-2
polycysic kidney disease2,3      
autosomal recessive PKHD1 606702 4-6
polycystic kidney disease1,2,3      
- DNAJB11 611341 3-4
autosomal dominant GANAB 104160 2-4
autosomal dominant PKD1 601313 2-4
autosomal dominant PKD2 173910 2-4
polyendocrine1      
autoimmune, type 1 AIRE 607358 2 - 4
Polyneuropathy ABHD12 613599 3-4
polyposis      
NGS APC, MUTYH, NTHL1, POLD1, POLE 611731, 604933 4-6
polyposis coli, familial adenomatous      
- APC 611731 4-8
polyposis, familial juvenile      
- SMAD4 600993 4-8
polyposis, MUTYH-associated      
- MUTYH 604933 4-8
porphyria1 ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS 4-6
Prolactinoma      
NGS AIP, DICER, MEN1, SDHB 4-6
Prolactinoma (AIP) AIP 605555 3-4
propionic acidemia*      
propionic acidemia PCCA 232000 6-10
propionic acidemia PCCA, PCCB 6-10
propionic acidemia PCCA, PCCB
propionic acidemia PCCB 232050 6-10
prostate cancer, familial      
NGS ATM, BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, PMS2, PALB2, TP53 4-6
protein C deficiency1 PROC 612283 2-4
Proteus syndrome      
NGS AKT1, PIK3CA, PTEN 4-6
pseudoachondroplasia1 COMP 600310 2-4
Pseudohypoaldosteronism      
type 1a GNAS, STX16 139320, 603666 2-4
type 1b GNAS 139320 2-4
type 1b GNAS, STX16 139320, 603666 2-4
Pseudohypoaldosteronism type 2      
- WNK1 605232 2-4
- WNK4 601844 2-4
- KLHL3 605775 2-4
Pseudohypoaldosteronism type I      
renal NR3C2 600983 2-4
pseudohypoaldosteronism type I      
SCNN1A 600228 2-4
SCNN1B 600760 2-4
SCNN1G 600761 2-4
Pseudohypoparathyroidism      
type 1a GNAS 139320 2-4
type 1a GNAS 139320 4-6
Pseudopseudohypoaldosteronism GNAS 139320 2-4
pulmonary alveolar microlithiasis (SLC34A2) SLC34A2 604217 2-4
Pyridoxine-dependent epilepsy* ALDH7A1 107323 2-4
pyruvate carboxylase deficiency* PC 608786 2-4
pyruvate dehydrogenase E3 deficiency1 DLD 238331 2-4

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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 ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.