Genomic Unity® Neuropathies Analysis

NR009

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:

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® Whole Genome Analysis.

  • Sequencing analysis of neuropathy associated genes
  • Del/dup analysis of neuropathy associated genes

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome 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

  • 81448, 81260, 81324, 81325, 81327, 81403 x2, 81404 x4, 81405 x2, 81406 x2, 81407, 81479 x3

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 10-12 weeks from sample receipt.

Please do not submit Protected Health Information (PHI) through this email address.

If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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