Carrier Status

Take some time to download the report examples that interest you to better understand the types of information your patients receive and may wish to share with you.

Carrier Status

These reports include genetic variants that have been linked to recessive conditions and provide insight into carrier status for the conditions listed below. These reports include only a subset of possible variants that may be linked to a condition, and it is possible to have other variants not included in these reports. Those with a family history of any of these conditions or increased risk based on ethnicity or family origin and are considering having children should discuss options for comprehensive testing with their healthcare provider.

Note: Sample reports do not cover all possible test result outcomes, and for many reports, residual risk estimates vary by ethnicity.

Carrier Status reports package insert

White Paper 23-11: Estimating Carrier Frequency, Carrier Detection Rate and Post-Test Carrier Risk for Recessive Disorders

Possible test results†
Report Gene Variants Relevant Ethnicities
Report Agenesis of the Corpus Callosum with Peripheral Neuropathy GeneSLC12A6 Variants1 Relevant Ethnicities French Canadian
Report ARSACS GeneSACS Variants1 Relevant Ethnicities French Canadian
Report Autosomal Recessive Polycystic Kidney Disease GenePKHD1 Variants3 Relevant Ethnicities Not applicable
Report Beta Thalassemia and Related Hemoglobinopathies GeneHBB Variants10 Relevant Ethnicities Cypriot, Greek, Italian, Sicilian, Sardinian
Report Bloom Syndrome GeneBLM Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Canavan Disease GeneASPA Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) GenePMM2 Variants2 Relevant Ethnicities Danish
Report Cystic Fibrosis GeneCFTR Variants29 Relevant Ethnicities European, Hispanic/Latino, Ashkenazi Jewish
Report D-Bifunctional Protein Deficiency GeneHSD17B4 Variants2 Relevant Ethnicities Not applicable
Report Dihydrolipoamide Dehydrogenase Deficiency GeneDLD Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Familial Dysautonomia GeneIKBKAP Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Familial Hyperinsulinism (ABCC8-Related) GeneABCC8 Variants3 Relevant Ethnicities Ashkenazi Jewish
Report Familial Mediterranean Fever GeneMEFV Variants7 Relevant Ethnicities Arab, Armenian, Sephardic Jewish, Turkish
Report Fanconi Anemia Group C GeneFANCC Variants3 Relevant Ethnicities Ashkenazi Jewish
Report Gaucher Disease Type 1 GeneGBA Variants3 Relevant Ethnicities Ashkenazi Jewish
Report Glycogen Storage Disease Type Ia GeneG6PC Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Glycogen Storage Disease Type Ib GeneSLC37A4 Variants2 Relevant Ethnicities Not applicable
Report GRACILE Syndrome GeneBCS1L Variants1 Relevant Ethnicities Finnish
Report Hereditary Fructose Intolerance GeneALDOB Variants4 Relevant Ethnicities European
Report Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) GeneLAMB3 Variants3 Relevant Ethnicities Not applicable
Report Leigh Syndrome, French Canadian Type GeneLRPPRC Variants1 Relevant Ethnicities French Canadian
Report Limb-Girdle Muscular Dystrophy Type 2D GeneSGCA Variants1 Relevant Ethnicities Finnish
Report Limb-Girdle Muscular Dystrophy Type 2E GeneSGCB Variants1 Relevant Ethnicities Southern Indiana Amish
Report Limb-Girdle Muscular Dystrophy Type 2I GeneFKRP Variants1 Relevant Ethnicities European
Report Maple Syrup Urine Disease Type 1B GeneBCKDHB Variants2 Relevant Ethnicities Ashkenazi Jewish
Report MCAD Deficiency GeneACADM Variants4 Relevant Ethnicities Northern European
Report Mucolipidosis Type IV GeneMCOLN1 Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Neuronal Ceroid Lipofuscinosis (CLN5-Related) GeneCLN5 Variants1 Relevant Ethnicities Finnish
Report Neuronal Ceroid Lipofuscinosis (PPT1-Related) GenePPT1 Variants3 Relevant Ethnicities Finnish
Report Niemann-Pick Disease Type A GeneSMPD1 Variants3 Relevant Ethnicities Ashkenazi Jewish
Report Nijmegen Breakage Syndrome GeneNBN Variants1 Relevant Ethnicities Eastern European
Report Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) GeneGJB2 Variants2 Relevant Ethnicities Ashkenazi Jewish, European
Report Pendred Syndrome and DFNB4 Hearing Loss GeneSLC26A4 Variants6 Relevant Ethnicities Not applicable
Report Phenylketonuria and Related Disorders GenePAH Variants23 Relevant Ethnicities Northern European
Report Pompe Disease GeneGAA Variants5 Relevant Ethnicities African/African American, European
Report Primary Hyperoxaluria Type 2 GeneGRHPR Variants1 Relevant Ethnicities European
Report Pyruvate Kinase Deficiency GenePKLR Variants1 Relevant Ethnicities Not applicable
Report Rhizomelic Chondrodysplasia Punctata Type 1 GenePEX7 Variants1 Relevant Ethnicities Not applicable
Report Salla Disease GeneSLC17A5 Variants1 Relevant Ethnicities Finnish, Swedish
Report Sickle Cell Anemia GeneHBB Variants1 Relevant Ethnicities African
Report Sjögren-Larsson Syndrome GeneALDH3A2 Variants1 Relevant Ethnicities Swedish
Report Tay-Sachs Disease GeneHEXA Variants4 Relevant Ethnicities Ashkenazi Jewish, Cajun
Report Tyrosinemia Type I GeneFAH Variants4 Relevant Ethnicities French Canadian, Finnish
Report Usher Syndrome Type 1F GenePCDH15 Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Usher Syndrome Type 3A GeneCLRN1 Variants1 Relevant Ethnicities Ashkenazi Jewish
Report Zellweger Syndrome Spectrum (PEX1-Related) GenePEX1 Variants1 Relevant Ethnicities Not applicable

FAQ

Questions? Contact us at medical@23andme.com.

*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet US FDA requirements for genetic health risks and the 23andMe Type 2 Diabetes health predisposition report which is based on 23andMe research and has not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. Warnings & Limitations: The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. The MUTYH-Associated Polyposis Genetic Health Risk Report is indicated for reporting the Y179C and G396D variants in the MUTYH gene and an increased risk for colorectal cancer. The two variants included in this report are most common in people of Northern European descent. These reports do not include variants in other genes linked to hereditary cancers and the absence of variants included in these reports do not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action. For important information and limitations regarding other genetic health risk reports and carrier status reports, visit 23andme.com/test-info.

The 23andMe PGS test uses qualitative genotyping to detect 6 variants in 3 genes in the genomic DNA of adults from saliva for the purpose of reporting and interpreting information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic. Results should be confirmed in a clinical setting with independent genetic testing before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For a complete list of the 6 variants tested, visit https://permalinks.23andme.com/pdf/pgt_product_info_page_21jan2020.pdf.