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

IllnessMcLeod neuroacanthocytosis syndrome; differential diagnosis

Request form illness

Summary

Short information

Comprehensive differential diagnostic panel for McLeod Neuroacanthocytosis syndrome containing 16 guideline-curated or altogether 19 curated genes according to the clinical signs

ID
MP2939
Number of genes
17 Accredited laboratory test
Examined sequence length
32,8 kb (Core-/Core-canditate-Genes)
60,2 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-GReferenz-Seq.Heredity
ATP7B4398NM_000053.4AR
ATXN31086NM_004993.6AD
FTL528NM_000146.4AD
HPRT1657NM_000194.3XLR
HTT9429NM_002111.8AD
JPH3561NM_001271604.4AD
NKX2-11206NM_001079668.3AD
PANK21713NM_153638.4AR
PLA2G62421NM_003560.4AR
VPS13A9408NM_033305.3AR
XK1335NM_021083.4XL
ANGPTL31383NM_014495.4AR
APOB13692NM_000384.3AD, AR
CP3198NM_000096.4AR
MTTP2685NM_000253.4AR
PRNP762NM_000311.5AD
TAF15682NM_004606.5XLR

Informations about the disease

Synonyms
  • Alias: McLeod Neuro-Akanthozytose-Syndrom
  • Alias: X-linked McLeod syndrome
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Hypercholesterolemia, familial, 2 (APOB)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Hyperuricemia, HRPT-related (HPRT1)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Metabolic syndrome, protection against (MTTP)
  • Allelic: Parkinson disease, susceptibility to (TBP)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Abetalipoproteinemia (MTTP)
  • Allelic: Kuru, susceptibility to (PRNPP)
  • Cerebellar ataxia (CP)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoacanthocytosis (VPS13A)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Dystonia-Parkinsonism, XL (TAF1 syn. DYT3)
  • Gerstmann-Straussler disease (PRNP)
  • HARP [hypoprebetalipoproteinemia, acanthocytosis, retinitis pigm., pallidal degen.] syndrome (PANK2)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Huntington disease (HTT_CAG)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CAG)
  • Hypobetalipoproteinemia (APOB)
  • Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
  • Insomnia, fatal familial (PRNP)
  • Lesch-Nyhan syndrome (HPRT1)
  • Machado-Joseph disease (ATXN3_CAG)
  • McLeod syndrome with or without chronic granulomatous disease (XK)
  • Mental retardation, XL, syndromic 33 (TAF1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Parkinson disease 14, AR (PLA2G6)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined