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

Alphabetical Test listing

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

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

Full gene sequencing is available for the majority of genes included in the Inheritest® NGS panels. See related Inheritest® test codes: Inheritest® Carrier Screen, Comprehensive Panel (144 Genes) [451950]; or Inheritest® Carrier Screen, Ashkenazi Jewish Panel (48 Genes) [451920]; or Inheritest® Carrier Screen, Society-guided Panel (14 Genes) [451960].

For HBA1 and HBA2 (alpha-thalassemia) see α-Thalassemia, DNA Analysis [511172]; for SMN1 see Spinal Muscular Atrophy (SMA) Carrier Testing [450010]; and for FMR1 see Fragile X Syndrome, PCR With Reflex to Southern Blot [511919].

  
ACD whole blood
  

Yellow ACD (A or B)

 

 

  
8.5 mL
  

Submission of maternal blood is required for analysis of Maternal Cell Contamination (LabCorp test #511402), which should be ordered separately.

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

  

Yellow ACD (A or B)

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

Lavender (EDTA), 10mL

Sterile container

  

Refrigerated (OK)

Ambient (OK)

Frozen - NO

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

Next generation sequencing (NGS)

  

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.

  
06/29/2020
  
07/10/2020