

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).
How Are Basic Carrier Screening Results Interpreted?
Carrier screening results are evaluated according to the genes analyzed and the technical scope of the test. If both parents are found to carry genetic variants associated with the same autosomal recessive condition, this is important when assessing the risk of the condition occurring in their child. Genetic counseling can help couples understand their results and explore family planning options.
| Intelligene Essential Carrier Screening Panel Gene List | |||||||||
| ACD | DIS3L2 | GREM1 | PIK3CA | SDHD | AIP | EPCAM | HOXB13 | PMS2 | SLX4 |
| AKT1 | ERCC1 | KIF1B | POLD1 | SMAD4 | APC | ERCC2 | KIT | POLE | SMARCA4 |
| ATM | ERCC3 | LZTR1 | POT1 | SMARCB1 | BAP1 | ERCC4 | MAX | PRKAR1A | SMARCE1 |
| BARD1 | ERCC5 | MEN1 | PTCH1 | SPINK1 | BLM | FAM175A | MET | PTEN | SPRED1 |
| BMPR1A | FANCA | MITF | RAD50 | STK11 | BRCA1 | FANCB | MLH1 | RAD51 | SUFU |
| BRCA2 | FANCC | MRE11A | RAD51B | TERF2IP | BRIP1 | FANCD2 | MSH2 | RAD51C | TERT |
| CASR | FANCE | MSH3 | RAD51D | TMEM127 | CDC73 | FANCF | MSH6 | RB1 | TP53 |
| CDH1 | FANCG | MUTYH | RECQL4 | TSC1 | CDK4 | FANCI | NBN | RET | TSC2 |
| CDKN1B | FANCL | NF1 | RHBDF2 | VHL | CDKN2A | FANCM | NF2 | RINT1 | WT1 |
| CEBPA | FH | NSD1 | RUNX1 | XPA | CHEK2 | FLCN | NTHL1 | SDHA | XPC |
| CTRC | GALNT12 | PALB2 | SDHAF2 | XRCC2 | DDB2 | GATA2 | PDGFRA | SDHB | DICER1 |
| GPC3 | PHOX2B | SDHC | |||||||
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.
19 Mayıs Mah. Çoruh Sok. No:32/1 Fulya, 34394 Şişli / Istanbul, Turkey
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