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

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One of the first laboratories to offer CMA testing in a clinical setting, Baylor Genetics has analyzed over 100,000 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.

Baylor Genetics provides two postnatal CMA options: CMA – High-resolution (HR) + Single Nucleotide Polymorphism (SNP) Screen and CMA – HR. When we receive your patient’s sample, it is analyzed against a control to determine differences in copy number variations (deletions or duplications). The location and type of change will often dictate the cause of your patient’s health condition.

CMA is highly recognized as a first-tier diagnostic test in the pediatric setting and 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 + single N=nucleotide polymorphism (SNP) for detection of absence of heterozygosity (AOH) & uniparental disomy (UPD)

When an SNV is detected in only one allele, this test may detect potential copy number changes in an autosomal recessive disease gene

Custom In-house Design: Baylor Genetics’ 400K Agilent array provides enhanced coverage for more than 5,000 genes associated with autosomal dominant, autosomal recessive X-linked disorders, and best candidate disease genes.

Benefits

  • Maximum sensitivity for detection of gains and losses
  • Exon-by-exon coverage of over 5,000 clinically significant genes
  • Whole genome backbone coverage at a 30 Kb resolution

  • 60,000 SNP probes used for the detection AOH associated with UPD or consanguinity

Limitations

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

High-resolution (HR) copy number analysis

Custom Baylor design – 180K Agilent

Benefits

  • Lower cost array option

  • High sensitivity for detection of gains and losses

  • Exon-by-exon coverage of over 1,700 genes

  • Tiling coverage of mitochondrial genome

  • Whole genome coverage at a 30 Kb resolution

Limitations

  • Does not detect AOH, UPD, or consanguinity
  • Does not have the highest level of exon-by-exon coverage available

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 their baby after delivery. If the ultrasound detects an abnormality, the CMA test might help to determine the cause.Prenatal CMA should be considered for fetuses with abnormal findings on imaging methodologies, NIPT, or serum screening. It should also be considered for advanced maternal age or further characterization of a previously identified chromosomal abnormality.The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) recommend CMA for prenatal diagnosis in cases with abnormal ultrasound findings.

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.

TARGETED CMA

The targeted prenatal array contains 180,000 oligonucleotides for copy number analysis and SNP probes targeted for chromosomes 6, 7, 11, 14, 15, and 20 for detection of uniparental disomy (UPD). Comparable to the array in the National Institute of Child Health and Human Development (NICHD) trial, this prenatal array is ideal for providers and patients who want detection of all well-characterized deletion/duplication syndromes.

TARGETED CMA + LIMITED CHROMOSOME ANALYSIS

The combination of the targeted CMA and limited karyotype analysis provides a more comprehensive and cost-effective way to obtain targeted CMA information as well as detection of any balanced chromosomal rearrangements, triploidy, tetraploidy, and mosaicism diagnosed by cytogenetic analysis.

Expanded CMA

Expanded CMA + Limited Chromosome Analysis

Targeted CMA

Targeted CMA + Limited Chromosome Analysis

Amniotic Fluid (AF)
TEST CODE

8670

8675

8656

8673

Chorionic Villi Sampling (CVS) TEST CODE

8671

8676

8657

8672

DIRECT

CULTURED

Take the first step with CMA Test

PRODUCT OVERVIEW
Requisitions
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.
Consent Form
Online Order
Medical Necessity Forms
Request Test Kit

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.

Carlos A. Bacino
Carlos A. Bacino
MD
Medical Director, Cytogenetics
Janice Smith
Janice Smith
PhD
Sr. Clinical Director, Cytogenetics
Weimin Bi
Weimin Bi
PhD
Division Director, Cytogenetics
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

Chen Y, Bartanus J, Liang D, Zhu H, Breman AM, Smith JL, Wang H, Ren Z, Patel A, Stankiewicz P, Cram DS, Cheung SW, Wu L, Yu F. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 Jun;38(6):669-677. PMID: 28247551

Mechanisms for complex chromosomal insertions

Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov 23;12(11):e1006446. PMID: 27880765

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

Kølvraa S, Singh R, Normand EA, Qdaisat S, Van denVeyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Oct 19. PMID: 27761919

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

Bi W, Cheung SW, Breman AM, Bacino CA. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 Oct;170(10):2540-50. PMID: 27287194

Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells

Normand, E., Qdaisat, S., Bi, W., Shaw, C., Van den Veyver, I., Beaudet, A., Breman, A. (2016) Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep;36(9):823-30. PMID: 27368744

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

Amy M. Breman, Jennifer C. Chow, Lance U’Ren, Elizabeth A. Normand, Sadeem Qdaisat, Li Zhao, David M. Henke, Rui Chen, Chad A. Shaw, Laird Jackson, Yaping Yang, Liesbeth Vossaert, Rachel H.V. Needham, Daniel Campton, Jeffrey L. Werbin, Ron C. Seubert, Ignatia B. Van den Veyver, Jackie L. Stilwell, Eric P. Kaldjian, Arthur L. Beaudet. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Sep 12. PubMed: 27616633

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive

Posey J, Mohrbacher N, Smith JL, Patel A, Potocki L, Breman AM. Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. Am J Med Genet A. 2015 Nov 14. PMID: 26566716

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene

Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH.   Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.  Am J Hum Genet. 87:708-712, 2010. PMID: 21035103