Deafness and Myopia (SLITRK6) Targeted Testing

Short Name: SLITRK6 Targeted

Deafness and Myopia is an autosomal recessive condition and is caused by pathogenic variants in the SLITRK6 gene. The condition is characterized by high myopia and sensorineural deafness. In affected individuals from an Old Order Amish community with deafness and myopia, a homozygous nonsense variant c.1240C>T (p.Gln414*) in exon 2 of SLITRK6 was identified, and a carrier frequency of 4.7% for the variant was found within the community. This targeted test will specifically analyze the c.1240C>T variant in the Amish population.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 221200
MedGen: 812605