Chromosomal Microarray SNP, Constitutional




Test Mnemonic

CRMSNP

CPT Codes

  • 81229 - QTY (1)

Aliases

  • CGH, CMA, SNP, Array

Includes

  • plus oligonucleotide probes
  • platform includes single nucleotide polymorphism (SNP) probes

Performing Laboratory

Cleveland Clinic Laboratories


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
Volume4 mLTypeWhole bloodContainerEDTA (Lavender)Collect Temperature Transport TemperatureAmbientSpecial InstructionsIf aliquoting is necessary, sterile aliquot tubes must be used.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
Volume1 mLType Container Collect Temperature Transport Temperature Special InstructionsMinimum of 1mL of Whole blood, EDTA (Lavender). If aliquoting is necessary, sterile aliquot tubes must be used.

Stability

Environmental Condition Description
Environmental ConditionAmbientDescriptionThe following specimens are considered unacceptable: 1. Clotted, frozen or hemolyed peripheral blood, 2. Samples collected in the incorrect anticoagulant, and 3. Improperly labeled specimen.

Days Performed

3 days per week

Turnaround Time

14 days

Methodology

Name Description
NameComparative genomic hybridization(CGH)Description 

Reference Range

Special Info

Recommended Use: Inherited or congenital anomalies or disorders. Provide clinical indication for analysis with the specimen. Clinical Indications: Individuals with unexplained intellectual disability, developmental delay, autism, dysmorphic features, or other phenotypic anomalies. Individuals with a suspicion of a chromosomal abnormality or microduplication/deletion syndrome with a normal karyotype. Determining the size of a duplication/deletion involved in an unbalanced translocation. Assessing possible cryptic duplications/deletions in an individual with an apparently balanced karyotype, but with phenotypic abnormalities. Triploidy, uniparental disomy (UPD) , absence of heteorzygosity to determine the degree of relatedness by identity-by-descent (autozygosity).

Clinical Info

Reflexed tests: Chromosomes and FISH. This test may incur an additional charge.

Clinical Reference

Lab and extension: Cytogenetics Lab/ 216-444-2489