OTOF-Transmembrane Protein Otoferin (Deafness Genetic Test), Whole Blood

OTOF-Transmembrane Protein Otoferin (Deafness Genetic Test)

Order Code:	OTOF
Epic Lab Code:	LAB7328
Order Form:	A-1a Miscellaneous Request or Epic Req

Commercial Mail-out Laboratory
01250 PFP
356-3527

Specimen:

Whole Blood

Collection Medium:

	and
Pink top tube	and	Pink top tube

Alternate Collection Media:

Lavender top tube 4 mL (EDTA)

Minimum:

Preferred Minimum: 8 mL whole blood Absolute Minimum: 4 mL whole blood

Turn Around Time:

3 months

Reference Range:

None detected

Interpretive Data:

DFNB9 The gene OTOF causes autosomal recessive nonsyndromic hearing loss at the DFNB9 locus, which maps to chromosome 2p23-p22. OTOF OTOF is a gene of 48 exons that encodes a transmembrane protein of 1230 amino acids called otoferlin. Otoferlin is expressed in multiple cell types within the cochlea. More than 24 mutations in OTOF have been reported and are associated with autosomal recessive nonsyndromic sensorineural hearing loss. Often, otoacoustic emissions (OAEs) are present while pure tone audiometry or auditory brain stem responses (ABRs) are grossly abnormal, features characteristic of auditory neuropathy. Sensitivity is greater than 98%.

Comments:

Please print, complete and submit the Deafness Testing Requisition from the Molecular Otolaryngology & Renal Research Laboratory, to Specimen Control/Mailouts with the specimen and the Epic Requisition.

Methodology:

Screening for OTOF is performed by DHPLC and sequencing. Oligonucleotide primers have been designed to amplify each exon. Amplified samples are run on the DHPLC; abnormal elution profiles are sequenced to determine the specific mutation. Exons carrying known SNPs are directly sequenced.

CPT Code:

83891, 83894, 83898 (x38), 83903 (x8), 83904 (x48)