Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:


General Information

Lab Order Codes:

SOCD (Blood samples only)


Developmental Eye Disorders Gene Testing

CPT Codes:

81400 – Molecular Pathology, Level 1

Test Includes:

For the gene of interest, the number of copies present in the patient's sample.


Test Indications:

Several developmental eye disorders have a known genetic basis including microphthalmia and anophthalmia.

Applications gene copy number analysis:
1. As a complementary test or substitute for FISH and quantitative microarray analysis when a deletion or duplication syndrome (contiguous or single gene) is suspected.
2. As a confirmation test for a genomic gain or loss identified by genome-wide microarray analysis.
3. To determine the presence or absence of a specific gene within a deleted chromosomal segment (contiguous gene deletion).
4. Diagnostic testing in a Mendelian disorder due to functional loss of one allele (haploinsufficiency), in particular when sequence analysis failed to identify a causative mutation and a whole gene deletion is a possible cause.
5. Carrier testing for deletion/duplication syndromes when the specific region is known in an affected relative.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

GeneDx, Inc. (GDX Test: 906, Specify gene/mutation)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)

Turnaround Time:

4 - 6 weeks

Special Instructions:

A GeneDx signed request form must be sent with any patient or specimen to the laboratory.


Specimen Type:

Whole blood


Lavender top (EDTA) tube

Draw Volume:

1 - 5 mL blood

Processed Volume:

Same as Draw Volume


Routine venipuncture for blood specimens, invert gently to mix

Special Processing:

Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including signed consent form and requisition, with a cool pack in warm weather, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Do not freeze.
Specimens may be stored at refrigerated temperatures for up to 7 days prior to shipping.

Patient Preparation:


Sample Rejection:

Unrefrigerated specimens older than 48 hours; clotted or hemolyzed for blood; frozen specimens; mislabeled or unlabeled specimens


Reference Range:

Interpretive report

Critical Values:



Buccal specimens are not acceptable for this testing.


Comparative quantitative analysis, fluorescent quantitative PCR-based method. Analysis done in triplicate.


GeneDx, Inc. March 2012
(301) 519-2100 Fax (301) 519-2892


1/29/2013: CPT 2013 update
3/26/2014: CPT update

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