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Basic Screening Panel

This panel is recommended as the standard carrier screening test for couples planning a pregnancy by major clinical guidelines, including ACMG Tier 3, ACOG, and ESHRE.

It includes the key genes responsible for a large proportion of inherited genetic disorders.

According to the ACMG guidelines, the standard carrier screening panel recommended for the general population is defined as Tier 3.* This tier includes conditions with a carrier frequency greater than 1 in 200 and comprises approximately 113 genes (97 autosomal and 16 X-linked).

Intelligene Essential Carrier Screening Panel Gene List
ACDDIS3L2GREM1PIK3CASDHDAIPEPCAMHOXB13PMS2SLX4
AKT1ERCC1KIF1BPOLD1SMAD4APCERCC2KITPOLESMARCA4
ATMERCC3LZTR1POT1SMARCB1BAP1ERCC4MAXPRKAR1ASMARCE1
BARD1ERCC5MEN1PTCH1SPINK1BLMFAM175AMETPTENSPRED1
BMPR1AFANCAMITFRAD50STK11BRCA1FANCBMLH1RAD51SUFU
BRCA2FANCCMRE11ARAD51BTERF2IPBRIP1FANCD2MSH2RAD51CTERT
CASRFANCEMSH3RAD51DTMEM127CDC73FANCFMSH6RB1TP53
CDH1FANCGMUTYHRECQL4TSC1CDK4FANCINBNRETTSC2
CDKN1BFANCLNF1RHBDF2VHLCDKN2AFANCMNF2RINT1WT1
CEBPAFHNSD1RUNX1XPACHEK2FLCNNTHL1SDHAXPC
CTRCGALNT12PALB2SDHAF2XRCC2DDB2GATA2PDGFRASDHBDICER1
GPC3PHOX2BSDHC       

Who Is It For?

This panel analyzes the most common inherited disorders with the highest carrier frequencies in our population. It is ideal for couples who wish to assess their carrier risk.

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