Postnatal High Density SNP Array

Test name: Postnatal High Density SNP Array
Also known as: Copy Number + SNP Array

Indications:

Developmental delay(DD) / Intellectual disability (ID)
Autism spectrum (ASD) and other Neurodevelopmental disorders
Dysmorphic features
Congenital anomalies
Seizure disorders
Neuromuscular disorders
Suspected microdeletion/microduplication syndrome
Imprinting-associated disorders, such as: Angelman syndrome (AS) and Prader-Willi syndrome (PWS)
Family history of a structural chromosome abnormality or rearrangement
Suspected consanguinity
Autosomal Recessive disorders when one parent is not affected

Test Information:

This array platform evaluates for copy number changes <1Kb - 10Kb (including deletions and duplications), Uniparental Disomy (UPD) including isodisomy (iUPD), and segmental Loss of Heterozygosity (LOH) / Regions of Homozygosity (ROH)
A total of 2.6 million markers (1.9 million non-polymorphic copy number probes), and 750,000 SNPs.
American College of Medical Genetics (ACMG) recommends microarray as a first tier test for those individuals with intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies
Microarray is more comprehensive and cost effective than ordering multiple FISH tests when considering several microdeletion/microduplication syndromes with overlapping symptoms
This platform will not detect single gene mutations, balanced chromosome arrangements such as translocations, or low level mosaicism. If trisomy 13, 18 or 21 is a consideration, chromosome analysis is recommended
This platform is appropriate for correlative and complementary testing with Next Generation Sequencing

Specimen requirements: Test kits are available – please contact the laboratory

CPT codes: 88230, 81229, 84311

Pricing: Contact the laboratory billing staff for current costs

Required forms: Postnatal Test Request Form

Turn-around time: Results are typically available in 1-2 weeks

revised: 3-20-13

CAP Accredited