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Prenatal Targeted Chromosomal Microarray
Test Code11441
CPT Codes
81413<br>***CPT code Varies by Gene<br>Restricted Client Code
Preferred Specimen
20 mL amniotic fluid submitted in a sterile leak-proof container - See Instructions
or 20 mg chorionic villi or amniocyte culture submitted in two T-25 flask(s) filled with culture medium
or 20 mg chorionic villi or amniocyte culture submitted in two T-25 flask(s) filled with culture medium
Instructions
Amniotic Fluid, CVS, Cultured Amniocytes
Labeling: Label with the patient’s name plus a second identifier such as date of birth, specimen ID or medical record number. If the tissue source is Products of Conception (POC) state this clearly and state whether the tissue was fetal or placental in origin. Stability: Cultures must be topped off with sterile medium immediately before shipping. All specimens, including Placental POCs will be tested for maternal cell contamination (MCC). Send a maternal blood or buccal sample for comparison. Other relatives’ specimens may be required. If the tissue source is products of conception (POC) state this clearly and state whether the tissue was fetal or placental in origin. Placental POC cultures require maternal cell contamination testing, and a maternal blood specimen is required for comparison.
DNA Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
*We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.*
**DNA MUST BE EXTRACTED IN A CLIA-certified Laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and /or the CMS.**
5 ug (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5 ug may not be sufficient.
Amount: *DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.*
Amount Exceptions: For domestic samples, refer to the DNA Amount Exceptions table below for list of single gene tests that require a minimum of 8 µg of DNA.
Diluent: For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA).
*Excess EDTA can inhibit reactions and must be avoided. *
Volume and Concentration:
The ideal specimen has a concentration of ≥50 ng/uL AND a volume of ≥100 µL.
*Specimens with concentrations over 250 ng/uL or volumes under 20 uL should be diluted before sending to avoid waste. *
Labeling: A minimum of two unique identifiers that match the paperwork MUST be provided on the specimen tube, such as the name/identifier of the person and date of birth. DNA concentration and volume MUST also be provided on the specimen tube.
Notes:
• Please contact GeneDx prior to sending in a sample for prenatal known variant testing.
• A positive control is required for prenatal known variant testing
• If the gene is associated with recessive inheritance, samples from both parents are required as positive control samples. GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes.
Labeling: Label with the patient’s name plus a second identifier such as date of birth, specimen ID or medical record number. If the tissue source is Products of Conception (POC) state this clearly and state whether the tissue was fetal or placental in origin. Stability: Cultures must be topped off with sterile medium immediately before shipping. All specimens, including Placental POCs will be tested for maternal cell contamination (MCC). Send a maternal blood or buccal sample for comparison. Other relatives’ specimens may be required. If the tissue source is products of conception (POC) state this clearly and state whether the tissue was fetal or placental in origin. Placental POC cultures require maternal cell contamination testing, and a maternal blood specimen is required for comparison.
DNA Requirements: (Acceptable Sources): DNA extracted from whole blood, buccal swab, saliva, oral rinse, fresh and frozen tissue, bone marrow, dried blood spots.
*We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue.*
**DNA MUST BE EXTRACTED IN A CLIA-certified Laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and /or the CMS.**
5 ug (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5 ug may not be sufficient.
Amount: *DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.*
Amount Exceptions: For domestic samples, refer to the DNA Amount Exceptions table below for list of single gene tests that require a minimum of 8 µg of DNA.
Diluent: For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA).
*Excess EDTA can inhibit reactions and must be avoided. *
Volume and Concentration:
The ideal specimen has a concentration of ≥50 ng/uL AND a volume of ≥100 µL.
*Specimens with concentrations over 250 ng/uL or volumes under 20 uL should be diluted before sending to avoid waste. *
Labeling: A minimum of two unique identifiers that match the paperwork MUST be provided on the specimen tube, such as the name/identifier of the person and date of birth. DNA concentration and volume MUST also be provided on the specimen tube.
Notes:
• Please contact GeneDx prior to sending in a sample for prenatal known variant testing.
• A positive control is required for prenatal known variant testing
• If the gene is associated with recessive inheritance, samples from both parents are required as positive control samples. GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes.
Transport Temperature
Amniotic fluid: See instructions
Chorionic villi or amniocyte culture: Room temperature
Chorionic villi or amniocyte culture: Room temperature
Specimen Stability
Amniotic fluid
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Chorionic villi or amniocyte culture
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Indefinitely
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Chorionic villi or amniocyte culture
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Indefinitely
Methodology
Affymetrix CytoScan HD microarray system
FDA Status
This test was developed, and its performance characteristics determined by GeneDx. This test has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. The test is used for clinical purposes and should not be regarded as investigational or for research. The laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity clinical testing.
Setup Schedule
Set up: As needed; Report available: 14 days
Reference Range
Negative
Clinical Significance
Mutation-specific testing for fetuses with a family history of a known mutation
