Medical Genetics Test Details

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Chromosomal Microarray Analysis - Tissue Deletion/Duplication Syndromes \| CMA \| Comparative Genome Hybridization \| Copy Number Variant \| CNV
Test Information:	Confirmation of clinical diagnosis, prenatal diagnosis The 180K CGH+SNP array is designed for detecting copy number variations in product of conception (POC). The assay can be performed on fresh POC tissue or formalin fixed paraffin embedded POC tissue. This analysis is performed directly on POC tissue without having to grow cells thereby minimizing maternal cell contamination and turn around time. This array contains both oligo probes that detect copy number variations (CNVs) and SNP probes that detect absence of heterozygosity (AOH) and segmental or whole chromosome uniparental isodisomy. The average resolution of the array is 30 Kb. This test can be used to detect CNVs and AOH in POC samples. This test has been validated in our laboratory on many POC samples with known clinically relevant CNVs detected by chromosome analysis, FISH, and/or other chromosome microarray platforms. The array is designed to detect losses and gains representing deletions, duplications or amplifications of POC genome. This assay will not detect low level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype. Maternal blood in an EDTA tube is recommended to be sent with the POC sample for Maternal cell contamination analysis. AOH less than 10 Mb in size will not be reported. This array cannot reliably detect AOH on FFPE samples if the DNA quality or quantity is below our laboratory standards.
Test Details
Test Code:	8639
Special Notes:	Gene mutations or unbalanced genomic rearrangements such as deletions or duplications less than 100kb in size will not be detected by this assay. This assay is not suitable to detect balanced chromosome rearrangements, uniparental disomy, imprinting defects, or other epigenetic mutations. Patients found to have a deletion/duplication by CMA will have the finding confirmed using karyotypic analysis or FISH at no additional cost.
Technical Information
Methodology:	Chromosome Microarray Analysis

Sample & Shipping Information
Test Requisition:	Cyto-POC
Specimen Type:	FFPE - Fetal Tissue
Requirements:	Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of fetal tissue (more than 50% fetal tissue). Please include a copy of corresponding surgical pathology report. Transport Temperature: sent at ambient temperature (18-25°C/64-77°F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months. Unacceptable Conditions: No fetal tissue present. Frozen specimens and specimens fixed/processed in alternative fixatives. Blocks older than 3 years will not be accepted. Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions:	Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze
Specimen Type:	FFPE - Slide(s)
Requirements:	10 unstained 10um FFPE slides containing adequate amounts of fetal tissue and a 4-5 um HE stained slide with areas of fetal tissue marked. Please include a copy of corresponding surgical pathology report. Transport Temperature: sent at ambient temperature (18-25°C/64-77°F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months. Unacceptable Conditions: No fetal in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives. Stability: Ambient: Indefinitely; Refrigerated: Acceptable
Shipping Conditions:	Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	Non-fixed tissue or products of conception
Requirements:	POC (products of conception): Dissected chorionic villi or known fetal tissue (preferred). Please send at least 50-100 mg villi or 0.5 - 1 cm³ tissue(s) in a sterile container with sterile: 1. Transport media provided by our laboratory, 2. Ringer's lactate, or 3. Hanks' balanced salt solution.
Shipping Conditions:	Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze.
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.

Billing Information
Turn Around Time:	21 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81229 x 1

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