Take The First Step Towards Finding The Right Answer With CMA Test

One of the first laboratories to offer CMA testing in a clinical setting, Baylor Genetics has analyzed over 80,000 microarrays.

Chromosomal microarray analysis (CMA) provides comprehensive genetic testing for the most common chromosomal conditions as well as a large number of severe genetic conditions not detected by traditional chromosome analysis. This test explores chromosomes in detail to help detect genetic conditions that cause significant disabilities. Baylor Genetics evaluates the entire human genome for regions that contain too many or too few copies of genetic material.

The microarray is like a grid covered with thousands of tiny probes consisting of small pieces of DNA from known locations on each of the 46 chromosomes. CMA looks for imbalances of chromosomal material between DNA from a control and your patient’s DNA. When a patient’s sample and the control sample are labeled and added to the microarry, our team can determine if there are any differences in copy number, also known as gains (duplications) or losses (deletions) in specific segments of DNA. If a difference is found, the location and type of change (gain or loss) will often determine the cause of your patient’s health condition.

CMA is a first-tier diagnostic test recommended by the American College of Medical Genetics (ACMG), the American Academy of Neurology (AAN), the Child Neurology Society (CNS), the American Academy of Pediatrics (AAP), and the International Standard Cytogenomic Array (ISCA) Consortium. CMA should be considered for individuals who lack a sufficient specific history or features on physical examination to suggest a specific genetic (or non-genetic) cause for intellectual disability, developmental delay, autism spectrum disorder, or multiple congenital anomalies.

Postnatal CMA

Test Code
Turnaround Time

High-resolution (HR) copy number analysis + SNPs for detection of absence of heterozygosity (AOH) & uniparental disomy (UPD)

Custom Baylor design – 400K Agilent

This level of detail is ONLY available on the Baylor Genetics CMA-HR + SNP screen

Benefits

  • Maximum sensitivity for detection of gains and losses
  • Exon-by-exon coverage of over 4,200 clinically significant genes
  • Whole genome backbone coverage at a 30 Kb resolution
  • Tiling coverage of mitochondrial genome
  • 57,000 oligos used for detection of absence of heterozygosity (AOH) associated with uniparental disomy (UPD) or consanguinity

Limitations

  • AOH less than 10 Mb in size will not be reported
  • The heterodisomy detection rate is not currently known for this assay

Prenatal CMA

Prenatal CMA compares specific regions of an unborn baby’s DNA to that of a normal genome.

The discovery of a genetic change may provide vital information to help manage your patient’s pregnancy and prepare for the baby after delivery. If the ultrasound detects an abnormality, the CMA test might help to determine the cause.

Prenatal CMA compares specific regions of an unborn baby’s DNA to that of a normal genome. CMA can detect chromosomal duplications or deletions—places where there are extra or missing pieces of DNA—that are not detected by standard karyotype testing. CMA identifies nearly all of the same information as a karyotype and more, including microduplication and microdeletion syndromes, all through the convenience of one test. Microduplication and microdeletion syndromes are genetic disorders caused by a small amount of DNA being duplicated or deleted on a chromosome. A person with an additional or missing copy of DNA may experience intellectual or physical abnormalities. Nearly everyone has the same risk to have a child with one of these disorders, regardless of their age.

Prenatal CMA compares specific regions of an unborn baby’s DNA to that of a normal genome.

The discovery of a genetic change may provide vital information to help manage your patient’s pregnancy and prepare for the baby after delivery. If the ultrasound detects an abnormality, the CMA test might help to determine the cause.

Prenatal CMA compares specific regions of an unborn baby’s DNA to that of a normal genome. CMA can detect chromosomal duplications or deletions—places where there are extra or missing pieces of DNA—that are not detected by standard karyotype testing. CMA identifies nearly all of the same information as a karyotype and more, including microduplication and microdeletion syndromes, all through the convenience of one test. Microduplication and microdeletion syndromes are genetic disorders caused by a small amount of DNA being duplicated or deleted on a chromosome. A person with an additional or missing copy of DNA may experience intellectual or physical abnormalities. Nearly everyone has the same risk to have a child with one of these disorders, regardless of their age.

EXPANDED CMA

This expanded prenatal array offers exon-by-exon coverage of over 1,700 genes as well as SNP probes across the entire genome. It is recommended for providers and patients who want the highest level of detection possible.

EXPANDED CMA + LIMITED CHROMOSOME ANALYSIS

The combination of the expanded CMA and limited karyotype analysis provides a more comprehensive and cost-effective way to obtain the highest level of CMA information as well as detection of any balanced chromosomal rearrangements that could be missed by CMA.

Take the first step with CMA Test

Specimen Requirements
SAMPLE TYPE REQUIREMENTS SHIPPING CONDITIONS

Blood

Draw blood in both Sodium Heparin (green-top) tube(s) and an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.

Buccal Swab

Collect with ORAcollect•Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). We highly recommend the sample be collected by a healthcare professional. Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Medical Director, Cytogenetics
Sr. Clinical Director, Cytogenetics
Division Director, Cytogenetics
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