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:
Amyotrophic lateral sclerosis (ALS)
Hereditary spastic paraplegia (HSP)
Motor neuropathies
Spinal 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.
Sequencing analysis of motor neuron disorder associated genes
Del/dup analysis of motor neuron disorder associated genes
Frontotemporal dementia and Amyotrophic lateral sclerosis (FTD-ALS) STR analysis: C9ORF72
Spinal and bulbar muscular atrophy STR analysis: AR
Optionally includes:
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.