MTTS1
The Clinical Diagnostics Service of the Molecular Otolaryngology Research Laboratory is a Joint Commission-approved CLIA-accredited diagnostic laboratory that offers mutation screening of several genes.

MTTS1 (OMIM# *590080)
The A7445G mutation in the MTTS1 gene, which encodes the transfer RNA for serine (OMIM#*590080), is associated with maternally inherited, nonsyndromic hearing loss (Reid et al., 1994). The deafness is progressive, post lingual and involves the high frequencies.

MORL screening methodology
Following sample amplification with oligonucleotide primers within the MTTS1 gene, a restriction digest is completed; digestion products are resolved by agarose gel electrophoresis. Presence of the A7445G mutation destroys an XbaI restriction site.

Sensitivity
Sensitivity is greater than 99%.

Turn-around time
Turn around time is approximately 3 months.

Cost: $150

Indications for screening
This test is appropriate for a patient suspected of having maternally inherited high frequency hearing loss.

GeneTests  GeneReviews – Nonsyndromic Hearing Loss, Mitochondrial

References
Reid, F. M. et al.: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3: 243-247, 1994.
PubMed ID:  8019558 
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Casano, R. A. et al.: Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet. 79(5):388-91, 1998.
PubMed ID: 9779807
PubMed Search