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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)
Test Information: Chromosomal Microarray Analysis - Comprehensive (CMA-Comprehensive) combines both CMA-HR and CMA-SNP into one array. The new 400k custom designed CMA-Comprehensive microarray (v9) now targets over 4,900 genes at the exon level. In addition to exon level copy number, this array also includes 60,000 probes used for SNP analysis for the detection of uniparental disomy (UPD) and absence of heterozygosity (AOH). The breakdown of the new targeted genes added is a follows:

41 clinically relevant genes that have been published in the last 24 months
742 genes that are available as a clinical test in the GeneTest database
804 X-linked genes
276 nuclear mitochondrial and candidate genes
232 autoimmune genes
316 OMIM autosomal dominant morbid genes
100 predicted haploinsufficient genes
153 genes associated with autism
186 candidate genes associated with epilepsy
44 genes associated with ADHD

These new genes are in addition to the previously 1,700 targeted genes associated with intellectual disability, seizure disorders, autism, heart defects, etc.
Test Details
Test Code: 8665
Special Notes: Results are analyzed using quantitative imaging methods and analytical software to assist in identifying each targeted-DNA sequence as loss of copy number (deletion), gain of copy number (duplication) or normal copy number. This technology has been validated in our laboratory on many patients with known microdeletions/duplications and other unbalanced karyotypes detected by traditional cytogenetic methods. CMA is limited to detection of gain or loss of genomic material. It will not detect low level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype. This array will also detect uniparental isodisomies and absence of heterozygosity (AOH). AOH less than 10Mb in size will not be reported. The detection rate of heterodisomies is currently not known for this assay.

We require that the referring center consult with our laboratory genetic counselors prior to submitting Product of Conception (POC) or Autopsy specimens. Please call 1-800-411-4363. If fetal demise occurred more than 48-72 hours prior to retrieval of tissue and delivery to lab, fetal tissue is unlikely to grow. In case of prior fetal demise, placenta is most likely to grow.
Technical Information
Sample & Shipping Information
Test Requisition: Cytogenetics
Specimen Type: Blood
Requirements: 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).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy <12 weeks gestation - Identifiable Fetal Parts
Requirements: Collect 5 cubic millimeters of sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy <12 weeks gestation - Placenta
Requirements: Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy >12 weeks gestation - Lung or Kidney
Requirements: Collect 5 cubic millimeters of Lung or Kidney. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy >12 weeks gestation - Placenta
Requirements: Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy >12 weeks gestation - Skin
Requirements: Collect 5 cubic millimeters of Skin from a central location (eg. Buttock or Upper Thigh) rather than from a distal location (eg. Foot) to enhance cell viability. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Product of Conception/Autopsy >12 weeks gestation - Unclotted Cord or Cardiac Blood
Requirements: 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).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.


Specimen Type: Skin Biopsy
Requirements: Collect 5 cubic millimeters of Skin from a central location (eg. Buttock or Upper Thigh) rather than from a distal location (eg. Foot) to enhance cell viability. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.



Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81229x1


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