Deutsch
IllnessPiebaldism, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Piebaldism comprising 2 core/core candidate genes and altogether 6 curated genes according to the clinical signs
ID
PP5160
Number of genes
5
Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
13,7 kb (Extended panel: incl. additional genes)
13,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Congenital pigmentation skin disorder with hypo-/depigmented leukoderma on various body parts, preferentially on forehead, chest, abdomen, upper arms, lower extremities, associated with white forelock (poliosis), in some cases with hypopigmented/depigmented eyebrows + eyelashes
DD: KITLG, MTOR, PAX3 genes
Synonyms
- Alias: Congenital absence of melanocytes, white symmetric patches on face, trunk, extremities
- Allelic: Craniofacial-deafness-hand syndrome (PAX3)
- Allelic: Deafness, AD 69, unilateral or asymmetric (KITLG)
- Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
- Allelic: Gastrointestinal stromal tumor, familial (KIT)
- Allelic: Germ cell tumors, somatic (KIT)
- Allelic: Leukemia, acute myeloid, somatic (KIT)
- Allelic: Mastocytosis, cutaneous (KIT)
- Allelic: Mastocytosis, systemic, somatic (KIT)
- Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
- Allelic: Skin/hair/eye pigmentation 7, blond/brown hair (KITLG)
- Allelic: Waardenburg syndrome, type 2D (SNAI2)
- Hyperpigmentation with/-out hypopigmentation (KITLG)
- Piebaldism (KIT)
- Piebaldism (SNAI2)
- Smith-Kingsmore syndrome (MTOR)
- Tietz albinism-deafness syndrome (MITF)
- Waardenburg syndrome, type 1 + 3 (PAX3)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined