Genomic Unity®  X-linked Intellectual Disability Plus Analysis

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Test Description

Test Code – NR012

Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogenous group of conditions. They include isolated (non-syndromic intellectual disability, NSID) and complex (syndromic intellectual disability, SID) conditions with variable clinical presentation. Known genetic causes are diverse and may include chromosomal abnormalities and microdeletions and duplications as well as monogenic changes in the nuclear and/or mitochondrial genome ranging from single nucleotide variants to indels and short tandem repeat expansions. Identification of an underlying genetic diagnosis can lead to changes in clinical management and inform family planning.

Genomic Unity® X-linked Intellectual Disability Plus Analysis uses a whole genome sequencing platform to diagnose neurodevelopmental disorders due to genetic causes of developmental delay or intellectual disability, with or without other symptoms, in 108 X-linked and autosomal genes.

When to order

Order this test when a person presents with clinical symptoms of neurodevelopmental delay, intellectual disability or autism spectrum disorder, with or without other symptoms. You also have the option to reflex up to Genomic Unity® Exome Analysis,  Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of neurodevelopmental delay-associated X-linked and autosomal genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of neurodevelopmental delay-associated X-linked genes (duplications/deletions, mobile element insertions, and inversions).
  • Short tandem repeat (STR) analysis of the AFF2, DMPK and FMR1 genes. (Learn more)

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The ARX, IQSEC2, KDM5C, SHANK3, SLC6A8, SYN1 and THOC2 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The false negative rate hasn’t been determined for repeat expansions for AFF2.

Test Performance

 %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 >  %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants
 %
Clinical sensitivity for STRs

CPT Codes

81470, 81471

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens

Blood

5ml

Saliva

2ml

gDNA

5μg

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

Learn More