INHERIT/Reveal CFTR Panel

The INHERIT/Reveal CFTR Panel covers the entire CDS of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The panel uses proprietary Stem-Loop Inhibition-Mediated amplification (SLIMamp®) technology for efficient single-tube target enrichment.

Benefits:

  • Requires as little as 10ng input DNA, even from poor-quality samples
  • Single-tube amplification technology for easy workflow
  • Automatable sample preparation
14 Variants detected by the INHERIT/Reveal CFTR Panel that are not covered by the Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay
HGVSc Legacy
c.3454G>C D1152H
c.443T>C* I148T
c.1721C>A p574H
c.4046G>A G1349D
c.3485G>T* R1162L
c.313delA 4444delA
c.3368-2A>T 3500-2A->T
c.509G>A* R170H
c.1523T>G* F508C
c.1519A>G I507V
c.429delT
c.935_937delTCT
c.1820_1903del84
c.-4G>C
All 23 ACMG23 variants detected
HGVSc Legacy
c.1521_1523delCTT F508del
c.1624G>T G542X
c.1652G>A G551D
c.3909C>G N1303K
c.350G>A R117H
c.3846G>A W1282X
c.1657C>T R553X
c.489+1G>T 621+1G->T
c.1585-1G>A 1717-1G->A
c.3718-2477C>T 3849+10kbC->T
c.2657+5G>A 2789+5G->A
c.3484C>T R1162X
c.1519_1521delATC I507del
c.254G>A G85E
c.3528delC 3659delC
c.1040G>C R347P
c.1364C>A A455E
c.2988+1G>A 3120+1G->A
c.1000C>T R334W
c.1766+1G>A 1898+1G->A
c.1679G>C R560T
c.579+1G>T 711+1G->T
c.2052delA 2184delA
Additional variants detected
HGVSc Legacy
c.2051_2052delAAinsG 2183AA->G
c3140-26A>G 3273-26A->G
c.54-5940_273+10250del21kb** CFTRdele2,3
c.617T>G L206W
c.2052dupA 2184insA
c.262_263delTT 394delTT
c.178G>T E60X
c.1477C>T Q493X
c.3302T>A M1101K
c.3196C>T R1066C
c.1021_1022dupTC 1154insTC
c.3773dupT 3905insT
c.3276C>A Y1092X
c.1646G>A S549N
c.1040G>A R347H
c.948delT 1078delT
c.3472C>T R1158X
c.1558G>T V520F
c.2012delT 2143delT
c.223c>T R75X
c.3744delA 3876delA
c.366T>A Y122X
c.532G>A G178R
c.1647T>G S549R
c.579+3A>G 711+3A->G
c.2125C>T R709X
c.2128A>T K710X
c.2668C>T Q890X
c.274-1G>A 406-1G->A
c.3964-78_4242+577del** CFTRdele22,23
c.274G>T E92X
c.1680-1G>A 182-1G->A
c.4243-35delT c.4375-36delT
 

*Targets are based on data from the American College of Medical Genetics and Genomics (ACMG).