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HelpEpic Code LAB2111370 Chromosome Analysis Constitutional
Test Name Alias
Cytogenetics Constitutional | Karyotype Constitutional | 923
Interface Order Alias
11384
Quick Collect
AP Ambient
Clinical Information
For individuals with nonsyndromic developmental delay/intellectual disability, autism spectrum disorder, or multiple anomalies not specific to a well-delineated syndrome, chromosomal microarray (Code 221; Array Comparative Genomic Hybridization (aCGH), Constitutional) offers a much higher diagnostic yield than G-banded chromosome analysis and is recommended by the American College of Medical Genetics as a first-tier genetic test.
Ordering Instructions
Chromosome Analysis Constitutional is a predictive and presymptomatic genetic test.
Submission of an order for any predictive genetic tests and presymptomatic genetic tests, as defined by MCL 333.17020, contained in this catalog constitutes certification to Corewell Health laboratories that the ordering physician understands that written, informed consent is required for these tests and that, by submitting an order for these genetic tests, ordering physician has obtained “Informed Consent” of subject patient as required by any applicable state or federal laws with respect to each test ordered. On occasion, we forward a specimen to an outside reference laboratory. Corewell Health laboratories may request that ordering physician provide such consent to Corewell Health upon a reasonable request.
For an example of an informed consent, click here.
Collection Instructions
Specimen Collection: Blood
Container(s): Green top Sodium (Na) Heparin
Preferred Volume to Collect: 8.0 mL
Minimum Volume to Collect: 3.0 mL
Neonate Volume to Collect: 1.0 mL
Capillary collect ok: N
Microtainer acceptable: N
Collection Instructions:
- Gently invert 8 times to mix anticoagulant with blood.
Processing Instructions (Laboratory, Outpatient or Off-site collection)
Processed Specimen: Whole Blood
Centrifuge/Spin: N
Aliquot: N
Processing Instructions:
- Keep whole blood at room temperature.
Transport Temperature: Ambient
If ambient temperature exceeds 80º F or is below 40º F, please send in an insulated container.
Specimen Stability
Ambient: 3 days (beyond 3 days, specimen viability will be detemined by Cytogenetics Lab)
Laboratory Retention: primary specimens 4 weeks; frozen pellets retained greater than 1 year
Test Frequency
Test Set Up: Monday – Friday 8:00 am – 5:00 pm, Saturday 8:00 am – 3:00 pm.
Technologist on call for Sunday set up.
Final report: 14 – 21 days. STAT Final Report: 7 days. STAT Preliminary Report: 2-3 business days.
Reference Range
An interpretative report will be provided.
Performing Department
Cytogenetics
Performing Department Laboratory Location
Corewell Health Advanced Technology Laboratory (ATL), Grand Rapids, MI
Methodology
Lymphocytes from a peripheral blood sample are stimulated to grow with phytohemagglutinin, cultured for 72 hours and treated to obtain elongated chromosomes. Following arrest of cell division with Colcemid, chromosomes are stained by the G-banding method. The chromosome number is determined by microscopic analysis and these cells are examined for the presence or absence of detectable structural rearrangements. Two banded karotypes are prepared, 20 or more metaphases are analyzed, and other techniques are employed when required. When applicable, an additional 10 cells will be studied to rule out the possibility of mosaicism of 10% at the 95% confidence level.
CPT
88230, 88262
CDM Code
3108823001, 3108826201
Epic Test ID
1230100586
Mayo Access Code
SHO134
Reviewed Date
4/28/2023