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:
Charcot-Marie-Tooth (CMT)
Hereditary neuropathy with liability to pressure palsies (HNPP)
Hereditary sensory and autonomic neuropathies
Motor 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.
Sequencing analysis of neuropathy associated genes
Del/dup analysis of neuropathy associated genes
Optionally includes:
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.