Inheritest® Gene-specific sequencing, NGS for Duchenne/Becker MD del/dup-994

Test info

  
Inheritest® Gene-specific sequencing, NGS for Duchenne/Becker MD del/dup
  
994
  
LAB994
  
MSO
  
Duchenne/Becker MD del/dup
Full gene sequencing
Partner gene sequencing

Specimen

  
ACD whole blood
  

Yellow ACD (A or B)

 

 

  
8.5 mL
  

Immediately following collection, mix by inverting 8 - 10 times to prevent clotting

  

Yellow ACD (A or B)

  
EDTA whold blood, amniotic fluid - 20 mL
Chorionic villus sample (CVS) - 20 mg
Cultured amniocytes
Cultured villi.
  

Whole blood:

Lavender (EDTA), 10mL

CVS:

Sterile container

  

Indicate specific gene in test order i.e. Duchenne/Becker MD Del/Dup

  

Refrigerated (OK)

Ambient (OK)

Frozen - NO

Performance

  
LabCorp Burlington (451910): R-NX
  
Mo - Fr
  
14 - 21 days
  

Next generation sequencing (NGS)

Clinical and Interpretive info

  

See report

  

Full gene sequencing for any one of the following genes: ABCC8, ACADM, ACADVL, ACAT1, ADA, ADAMTS2, AGA, AGL, AGXT, ALDH3A2, ALDOB, ALPL, AMT, ARSA, ARSB, ASL, ASPA, ASS1, ATM, ATP7B, BBS1, BBS2, BBS10, BCKDHA, BCKDHB, BCS1L, BLM, CBS, CFTR, CLN3, CLN5,CLN8, CLRN1, COL4A3, COX15, CPS1, CPT2, CTNS, CTSA, DHCR7, DHDDS, DLD, DMD, DPYD,ERCC5, ETHE1, FAH, FANCC, FKTN, FOXRED1, FUCA1, G6PC, GAA, GALC, GALNS, GAMT, GALT, GBA, GCDH, GLB1, GLDC, GNPTAB, GNS, GRHPR, GSS, GUSB, HADHA, HBB, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HSD17B4, IDS, IDUA, IL2RG, IKBKAP, LAMA3, LAMB3, LAMC2, LRPPRC, MAN2B1, MANBA, MCOLN1, MEFV, MMAA, MMAB, MMACHC, MPL, MTTP, MUT, NAGLU, NBN, NDUFAF2, NDUFS4, NDUFS7, NDUFV1, NEB, NEU1, NPC1, NPC2, NPHS1, NPHS2, OTC, PAH, PCCA, PCCB, PDHA1, PCDH15, PEX1, PEX2, PEX6, PEX7, PEX10, PEX12, PEX26, PKHD1, PHGDH, PMM2, PPT1, RMRP, SACS, SLC12A6, SLC17A5, SLC26A2, SLC37A4, SMPD1, TMEM216, TPP1, SGSH, SLC22A5, SLC25A20, SLC35A3, SUMF1, SURF1, TTPA, VPS13B, XPA and XPC.

 

Deletion/Duplication analysis for HBA1 and HBA2 can be ordered using this test code. Full gene sequencing cannot be performed.

Billing

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

Tracking

  
06/29/2020
  
12/26/2023