Genomic Unity® Motor Neuron Disorders Analysis

Motor neuron disorders affect the nerves that control the body's voluntary muscles. They are characterized by progressive muscle weakness and atrophy, spasticity and overactive tendon reflexes.

Genomic Unity® Motor Neuron Disorders Analysis is an effective test for the genetic cause of muscle weakness in patients with clinical symptoms consistent with the following inherited motor neuron disorders:

checkmarkAmyotrophic lateral sclerosis (ALS)

checkmarkHereditary spastic paraplegia (HSP)

checkmarkMotor neuropathies

checkmarkSpinal muscular atrophy (SMA)

As well as related disorders.

Order this test when the patient presents with clinical symptoms consistent with motor neuron disorders like amyotrophic lateral sclerosis, hereditary spastic paraplegia or spinal muscular atrophy and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.

checkmark Sequencing analysis of motor neuron disorder associated genes

checkmark Del/dup analysis of motor neuron disorder associated genes

checkmarkFrontotemporal dementia and Amyotrophic lateral sclerosis (FTD-ALS) STR analysis: C9ORF72

checkmarkSpinal and bulbar muscular atrophy STR analysis: AR

Optionally includes:

checkmark Reflex to Genomic Unity® Exome Plus Analysis

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

SNVs and Indels up to 50bp
99.7% sensitivity
99.7% positive predictive value

Note that the SMN2 gene is only analyzed for determination of copy number for assessment of severity of spinal muscular atrophy (SMA).

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81204x1, 81336x1, 81403x1, 81404x5, 81405x6, 81406x10, 81407x3

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.

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