Genomic Unity® Motor Neuron Disorders Analysis

NR005

Genomic Unity® Motor Neuron Disorders Analysis is a diagnostic test designed to identify genetic variants that cause motor neuron disorders.

Test Description

Genomic Unity® Motor Neuron Disorders 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 116 genes associated with motor neuron disorders.

Genomic Unity® Motor Neuron Disorders 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 are consistent with motor neuron disorders like amyotrophic lateral sclerosis, hereditary spastic paraplegia, spinal muscular atrophy, or other disorders.

Included Genes

ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, AR, ARL6IP1, ASAH1, ATL1, ATP13A2, ATP7A, B4GALNT1, BICD2, BSCL2, C12ORF65, C19ORF12, C9ORF72, CAPN1, CCT5, CHCHD10, CHMP2B, CPT1C, CYP2U1, CYP7B1, DCTN1, DDHD1, DDHD2, DNAJB2, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FBXO38, FIG4, FUS, GARS1, GBA2, GJC2, GRN, HACE1, HINT1, HNRNPA1, HSPB1, HSPB3, HSPD1, IBA57, IGHMBP2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LAS1L, MAG, MAPT, MARS1, MATR3, NEFH, NIPA1, NT5C2, OPTN, PFN1, PLEKHG5, PLP1, PNPLA6, PRPH, RAB3GAP2, REEP1, REEP2, RTN2, SACS, SETX, SIGMAR1, SLC16A2, SLC1A4, SLC33A1, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TRPV4, TUBA4A, UBA1, UBAP1, UBQLN2, USP8, VAMP1, VAPB, VCP, VPS37A, VRK1, WASHC5, ZFYVE26, ZFYVE27

Included Analyses

  • Sequence analysis of motor neuron disorder-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of motor neuron disorder-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the AR and C9ORF72 genes. (Learn more).

Optionally includes:

Turnaround Time

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

Sample Types

CPT Codes

81173, 81204, 81329, 81336, 81403, 81404, 81405, 81406, 81407, 81443

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® Motor Neuron Disorders 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:
>99% clinical sensitivity

Test limitations:
The AR and KDM5C genes are not fully covered by this test, therefore not all pathogenic variants may be detected. Small sequence changes identified in the SMN1 or SMN2 genes might not be assigned to the correct location, limiting interpretation.