PDF iconHearing Loss Requisition Form

The Clinical Diagnostics Service of the Molecular Otolaryngology & Renal Research Laboratories is a CLIA-approved, Joint Commission-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.

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

MORL screening methodology
Samples are amplified with an oligonucleotide primer pair that flanks the A7445G mutation within the MTTS1 gene, followed by sequencing.

Sensitivity
Sensitivity is greater than 99%.

Turnaround time
Turnaround time is approximately 3 months (Average TAT - 24 days).

Sample Required
8 - 10 cc. whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).

Cost & CPT Codes
See the MORL testing menu

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