©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDysautonomia, familial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Dysautonomia, familial comprising 1 guideline-curated and altogether 26 curated genes according to the clinical signs

ID
DP3648
Number of genes
17 Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
58,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AAAS1641AR
ELP13999AR
GMPPA1263AR
KIF1A5073AR
NGF726AR
NTRK12373AR
PHOX2B945AD
RETREG11494AR
SPTLC11422AD
SPTLC21689AD
DST17028AR
PRDM121109SMu
PRNP762AD
SCN11A5376AD
SCN9A5934AD, AR
TTR444AR
WNK17149AR

Informations about the disease

Clinical Comment

Sensory + autonomic neuropathy with decreased pain + temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure + progressive optic neuropathy

 

Synonyms
  • Allelic: Medulloblastoma (ELP1)
  • Alacrima, achalasia, mental retardation syndrome (AAAS)
  • Alacrima, achalasia, mental retardation syndrome (GMPPA)
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (PHOX2B)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Charcot-Marie-Tooth disease, DI, D (MPZ)
  • Charcot-Marie-Tooth disease, type 1B (MPZ)
  • Charcot-Marie-Tooth disease, type 2B (RAB7A)
  • Charcot-Marie-Tooth disease, type 2I (MPZ)
  • Charcot-Marie-Tooth disease, type 2J (MPZ)
  • Congenital insensitivity to pain [panelapp] (CLTCL1)
  • Dejerine-Sottas disease (MPZ)
  • Dysautonomia, familial; Riley-Day syndrome; HSAN III (ELP1)
  • Hereditary sensory neuropathy type I-VII
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Marsili [pain insensitivity disorder] syndrome (ZFHX2)
  • NESCAV syndrome (KIF1A)
  • Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Neuroblastoma, susceptibility to, 2 (PHOX2B)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
  • Neuropathy, hereditary sensory + autonomic, type II (WNK1)
  • Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1)
  • Neuropathy, hereditary sensory + autonomic, type III (ELP1)
  • Neuropathy, hereditary sensory + autonomic, type IX, with developmental delay (TECPR2)
  • Neuropathy, hereditary sensory + autonomic, type V (NGF)
  • Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
  • Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
  • Neuropathy, hereditary sensory, type ID (ATL1)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Neuropathy, hereditary sensory, type IF (ATL3)
  • Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Pseudohypoaldosteronism, type IIC (WNK1)
  • Roussy-Levy syndrome (MPZ)
  • Spastic paraplegia 30, AD, AR (KIF1A)
  • Spastic paraplegia 3A, AD (ATL1)
  • Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ((LLIFR)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G90.1

Bioinformatics and clinical interpretation

No text defined