Number of Panel Genes: 
42

Charcot Marie Tooth (CMT) hereditary neuropathies are a group of disorders characterized by dysfunction of peripheral motor and sensory nerves. Clinical features of CMT include progressive distal muscle weakness and atrophy, mild to moderate distal sensory loss, depressed tendon reflexes, and a typical foot deformity with pes cavus and hammer toes.read more

Tests Available

42 Panel Genes: AARS, AIFM1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS
Next Generation Sequencing
$1,520
Test Code: 5130
Deletion / Duplication
$990
Test Code: 5131
NGS/Del Dup Comprehensive
$1,895
Test Code: 5132

Test Details

Technical Information
Panel Genes: 
AARS, AIFM1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
613287
310490
600794
615035
613559
616039
615025
606482
614228
607678
145900
605253
609311
611228
601472
214400
302800
615185
606595
608673
613641
118210
601098
605588
614436
605589
601152
607791
118200
607677
607736
145900
605253
601382
601455
607684
607734
300905
615376
118300
118220
145900
311070
614895
145900
600882
615284
604563
601596
604484
615490
606071
608323
Billing
Price: 
$1,520
CPT Codes: 
81404 x 3
81405 x 5
81406 x 7
81479 x 25
81403 x 1
81325 x 1
Ordering
SKU:
5130
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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