Amish Brittle Hair Syndrome (MPLKIP) Targeted Testing

AKA: Nonphotosensitive Trichothiodystrophy-4; Hair Brain Syndrome; BIDS Syndrome; Pollitt Syndrome
Short Name: MPLKIP Targeted

Amish brittle hair syndrome, or trichothiodystrophy amongst those of Old Order Amish descent is characterized by short stature, relatively mild intellectual impairment, brittle hair, and decreased fertility. The c.430A>G (p.Met144Val) variant in exon 2 of the MPLKIP gene has been identified as the pathogenic variant in the Old Order Amish population. The targeted testing will specifically analyze the c.430A>G variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 234050
MedGen: 501191