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Test Code CGPBR CHROMOSOME ANALYSIS WITH REFLEX TO CYTOGENOMIC SNP ARRAY, PERIPHERAL BLOOD

Important Note

Please tube specimen to J-601: Tube Station #461

Specimen and Container/Tube

Whole peripheral blood in one EDTA (purple top) tube and one NaHp (green top) tube

Specimen Handling and Transport Instructions

Keep at room temperature and deliver within 24 hours.  Specimen can be tubed to J-601 (tube station #461). 

Rejection Criteria

>48 hours old, incorrect anticoagulant, clotted, hemolyzed

Reference Values

Interpretative Report

Critical Values

N/A

Turnaround Time

N/A

CPT Codes

81229

LOINC Codes

N/A

Volume

1-3mL in both the EDTA tube and NaHp tube

Collection Instructions

Whole blood collected in the following tubes: 1-3ml in an EDTA (purple top) tube and 1-3ml of blood in a NaHp (green top) tube.  Keep at room temperature and tube to lab within 24 hours. 

Additional Information

SNP Array Test Limitations:  Will not detect balanced translocations, low level mosaicism,
some instances of uiparental disomy, point mutations and small insertion/deletions.

Last Review Date

11/14/2022 RB

Clinical Indications

Indication for testing include: Individuals with developmental delay/intellectual disability (with or without dysmorphic
features), multiple congenital anomalies, autism spectrum disorder/pervasive developmental disorder, epilepsy/seizures, heart defects, family history of a chromosomal abnormality resulting in a genomic imbalance, and detection of chromosomal rearrangements.

Test Components

Tissue Culture; limited chromosome analysis; karyotype with reflex to SNP array if chromosomes are normal

Methodology

Chromosome Analysis;  SNP Microarray

Synonyms/Key Search Words

Chromosome analysis, Karyotype, Chromosome, Microarray, SNP, gen hyb, ACGH, Gene, Whole Gene, CGH

Specimen Stability

Keep at room temperature and deliver within 24 hours.