Genomic Unity® Neuropathies Analysis

Hereditary neuropathies are a group of disorders that affect the peripheral nervous system. They are characterized by progressive muscle weakness and atrophy.

Genomic Unity® Neuropathies Analysis is an effective test for the genetic cause of muscle weakness in patients with clinical symptoms consistent with the following inherited neuropathies:

checkmarkCharcot-Marie-Tooth (CMT)

checkmarkHereditary neuropathy with liability to pressure palsies (HNPP)

checkmarkHereditary sensory and autonomic neuropathies

checkmarkMotor neuropathies

Order this test when the patient presents with clinical symptoms consistent with an inherited neuropathy and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.

checkmark Sequencing analysis of neuropathy associated genes

checkmark Del/dup analysis of neuropathy associated genes

Optionally includes:

checkmark Reflex to Genomic Unity® Exome Plus Analysis

AARS1, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BICD2, BSCL2, CCT5, CHCHD10, COA7, COX6A1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBXO38, FGD4, FIG4, FLRT1, GAN, GARS1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS1, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, UBA1, VAPB, VCP, VRK1, WNK1, YARS1

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

Structural variants:
96% clinical sensitivity

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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