Hypotrichosis NGS panel

Genes
(full coding
region):		 APCDD1, CDSN, DSC3, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differential diagnosis of nonsyndromic hypotrichosis forms and other genetically/phenotypically related disorders
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling

Nonsyndromic Hypotrichosis (HYPT) is a group of clinically and genetically very heterogeneous disorders characterized by sparse to complete absence of hair on the scalp and whole body. Sparse hair is the result of a hair regeneration defect, caused by impairment in hair cycling and anchoring of the hair shaft in the skin. Currently 14 forms of nonsyndromic HYPT are described. Seven genes (APCDD1, CDSN, KRT74, HR, EPS8L3, SNRPE, RPL21) for autosomal dominant, and seven genes (HR, DSG4, LIPH, LPAR6, KRT71, DSC3, LSS) for autosomal recessive forms of nonsyndromic HYPT disorders have been discovered. To date, the causative genes for hypotrichosis 9 and 10 have not been identified yet.

The test covers the known genetic causes of nonsyndromic HYPT (except EPS8L3 and LSS genes). Nonsyndromic HYPT is inherited in an autosomal dominant or autosomal recessive pattern.

The worldwide prevalence of nonsyndromic HYPT is unknown. In Japan, autosomal recessive hypotrichosis is estimated to affect 1 in 10,000 individuals.

References:
Basit S, Khan S, Ahmad W. Genetics of human isolated hereditary hair loss disorders. Clin Genet. 2015;88(3):203-212. doi:10.1111/cge.12531. PMID: 25350920
Ahmed, A., Almohanna, H., Griggs, J. et al. Genetic Hair Disorders: A Review. Dermatol Ther (Heidelb) 9, 421–448 (2019). https://doi.org/10.1007/s13555-019-0313-2. PMID: 31332722
Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad Dermatol Venereol. 2013;27(5):545-549. doi:10.1111/j.1468-3083.2012.04472.x. PMID: 22385360