CHROMOSOMAL MICROARRAY ANALYSIS (CMA) - SNP Array

SNP for UPD and Copy Number ≥ 300Kb

In addition to offering the Chromosomal Microarray Analysis - High Resolution (CMA-HR), the Medical Genetics Laboratories are now offering a high density SNP array with over 600,000 probes to test for DNA copy number changes associated with classical microdeletion and microduplication syndromes as well as detection of Absence of Heterozygosity (AOH) resulting in Uniparental Disomy (UPD).

Reasons for Referral:

Suspected microdeletion/microduplication syndrome
Suspected Uniparental Disomy (UPD) for any chromosome
Suspected Prader-Willi Syndrome
Suspected Angelman Syndrome
Suspected Beckwith-Wiedemann Syndrome
Neonatal diabetes possible parental UPD 6
Short stature possible maternal UPD 7
Precocious puberty possible maternal UPD 14

Testing Methodology:

CMA-SNP for UPD and Copy Number utilizes an in-house validated array for analysis of CNVs as well as copy neutral absence of heterozygosity (AOH) associated with uniparental disomy. It contains 620,901 markers with mean and median marker spacing of 4.7kb and 2.7 kb respectively. This array uses two genotyping measurements, normalized intensity and allelic ratios to detect chromosomal abnormalities. The high density format allows for detection of all classic deletion/duplication syndromes, as well as enabling detection of novel variants over 300 kb, and absence of heterozygosity.

Specimen Requirements:

Blood in both EDTA (purple top) and Sodium Heparin (Green top) tubes:
Adult: 10 cc per tube
Child: 4 cc per tube
Infant: 2 cc per tube

Not currently offering prenatal analysis.

Turnaround Time:

7-10 days

Shipping and Handling:

Medical Genetics Laboratories
GRAND BLVD. RECEIVING DOCK
2450 HOLCOMBE BLVD.
Houston, TX 77021

Prepaid shipping kits are available upon request: Please call MGL at 1-800-411-GENE (4363).

CPT Codes:

For information on fees or CPT codes please contact our Billing Office at 713-798-3295

Forms:

>> Cytogenetics Requisition

Test Codes:

7772