Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:


General Information

Lab Order Codes:



Hearing Loss Genes

CPT Codes:

81254 x1 – GJB2 gene analysis; full sequence, common variants
81430 x1 – Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include at least 60 genes

Test Includes:

Sequence testing for 70 genes known to cause nonsyndromic hearing loss and syndromes that can present as nonsyndromic.


Test Indications:

Evaluation of undiagnosed hearing loss.

Lab Testing Section:

Anatomic Pathology - Sendouts

Referred to:

Harvard Medical School Laboratory for Molecular Genetics

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

8 - 12 weeks

Special Instructions:

Please send completed Harvard requisition and consent with the patient or specimen to the laboratory. The consent portion of the form is required. Please note that incomplete of missing paperwork may delay the start of testing.


Specimen Type:

Whole blood


Lavender top (EDTA) tube

Draw Volume:

7 mL (Minimum 3-5 mL for an infant) blood

Processed Volume:

Same as Draw Volume


Routine venipuncture

Special Processing:

Lab Staff: Send lavender tubes labeled with a minimum of Name, Date of Birth, and Age. The reference laboratory accepts samples Monday through Friday from 9am to 5pm. Labeled specimens and requisitions/consents should be sent overnight at room temperature.

**Notice: Samples are NOT accepted on Saturdays, Sundays or holidays. Please keep blood samples collected on these days at refrigerated temperatures until the next business day.

Patient Preparation:


Sample Rejection:

Mislabeled or unlabeled specimens


Reference Range:

Benign for familial variants


Next generation sequencing using oligonucleotide-based target capture (Agilent SureSelect) followed by Illumina HiSeq sequencing of the coding regions and splice sites. Sanger sequencing is used to confirm all clinically significant variants and fill in regions with insufficient coverage.


Harvard Medical School, Laboratory for Molecular Genetics, Partners Health Care Center for Personalized Genetic Medicine
Phone: 617-768-8500 Fax: 617-768-8513 Email: [email protected]


1/21/2014: CPT update
3/5/2015: CPT update

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