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Lab Dept:

Anatomic Pathology

Test Name:


General Information

Lab Order Codes:

SICD (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.
1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Prenatal diagnosis

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, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Include a cool pack when shipping in warm weather. 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 3 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 brushes are not acceptable for this testing.


Targeted array CGH analysis with exon-level resolution


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


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

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