Genomic Unity®  X-linked Intellectual Disability Plus Analysis

NR012

Genomic Unity® X-linked Intellectual Disability Plus Analysis is a diagnostic test designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability.

Test Description

Genomic Unity® X-linked Intellectual Disability Plus Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 108 neurodevelopmental delay-associated, X-linked and autosomal genes.

Genomic Unity® X-linked Intellectual Disability Plus Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when clinical symptoms of neurodevelopmental delay are present, including symptoms of intellectual disability and/or autism spectrum disorder, with or without additional clinical symptoms.

Included Genes

ABCD1, ACSL4, ADNP, AFF2, AP1S2, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CHD2, CLCN4, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, DMPK, ELK1, FANCB, FGD1, FLNA, FMR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GRIN2A, GRIN2B, HCCS, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, KLF8, L1CAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, MSL3, MTM1, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NONO, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, PTEN, RAB39B, RBM10, RLIM, RPL10, RPS6KA3, SHANK3, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, ZCCHC12, ZDHHC9, ZNF711

Included Analyses

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

Optionally includes:

Turnaround Time

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

Sample Types

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.

Methods and Limitations

Genomic Unity® X-linked Intellectual Disability Plus Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
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 has not been determined for repeat expansions for AFF2.