Carrier Screening Result Interpretation

  Result & Interpretation

You are tested positive as a carrier of the following disease(s)
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Diseases G-6-PD
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Diseases Maple Syrup Urine Disease
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Diseases Phenylketonuria
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Patient is found to be a carrier of genetic alterations reported to cause Maple syrup urine disease, Phenylketonuria, Glucose-6-phosphate dehydrogenase and Wilson's disease. The report showed one gene with a change that causes Wilson's disease and another copy of the gene is normal. Despite having a normal copy of the gene, the copy with the gene change is able to cause Wilson's disease . It is recommended that the patient seek for medical consultation to assess for symptoms related to Wilson's disease . There is a 50% chance for patient to pass on this gene change to their children in each pregnancy and 50% chance for patient's siblings to have the gene alteration similar to patient. As a carrier of Maple syrup urine disease and Phenylketonuria , one copy of the gene has been reported to have a gene change and the other is normal. Generally, carriers are not affected with Maple syrup urine disease and Phenylketonuria and would require two genes to be altered to be affected with Maple syrup urine disease and Phenylketonuria . If patient’s spouse/partner carries the similar genetic alteration, there is a 25% chance in each pregnancy for their child (male or female) to will be affected with Maple syrup urine disease and Phenylketonuria , 50% chance their child may be carriers like themselves and 25% with no gene changes. It is recommended for patient’s spouse/partner to perform carrier testing for Maple syrup urine disease and Phenylketonuria . Males are usually affected if found to have the genetic alteration and have a 50% chance to pass on the genetic alteration to their daughters (not usually affected with Glucose-6-phosphate dehydrogenase ). Females are usually not affected with Glucose-6-phosphate dehydrogenase . Female carriers have a 50% chance in each pregnancy to have a boy affected with Glucose-6-phosphate dehydrogenase and 50% chance for their daughters to be carriers.

Genetic Counsellor comment(s)

This test conducted is a screening test and may have limitations to test for other gene alterations that would cause the disease. It would be recommended for patient to consult a doctor/genetic counsellor/clinical geneticist for genetic counselling and to consider diagnostic testing.


The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting carrier status. It is not intended to diagnose any disease. This assay will not detect all the mutations in these genes that cause the reported diseases or other related conditions. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with these diseases. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. If results obtained do not match the clinical findings, additional testing should be considered. There is a possibility some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance, variable expressivity is probably caused by a combination of genetic, environmental, and lifestyle factors, most of which have not been identified.


Carrier screening is performed to detect genetic mutations that may increase the risk of a genetic disorder. This testing may impact the reproductive decision-making for parents or prospective parents. Carrier screening may be available for autosomal recessive conditions, autosomal dominant fewer penetrant conditions, X-linked conditions, and certain chromosome abnormalities. In general, carrier screening may be performed for conditions that are found in the general population (panethnic), for diseases that are more common in a population or based on family history.

This report was generated based on the genes tested which includes variants with association of health conditions. There may be other associated variants that were not analyzed in this test. This test does not include all mutations found in these genes. Negative results therefore reduce the risk of being a carrier but do not eliminate it. Further testing may be indicated based on the family history. This report provides information on your genetic predisposition towards a specific health condition. This is a screening test and should not be considered as a diagnostic test. The screening test categorized based on the Online Mendelian Inheritance in Man (OMIM®) catalog of human genes and genetic disorders and the effect is based on the ClinVar database.

Important: Each genetic inheritance disease report describes if a person has variants associated with hereditary disease but does not describe a person’s overall risk of developing the disease. These reports are not intended to tell a person anything about his or her current state of health, or to be used to make medical decisions, including whether he or she should take a medication or how much of a medication should be taken. Please consult a medical professional if the variants reported disease runs in your family. This report is solely based on genetic makeup of the individual and variants were detected at the time of sample collection. BioEasy Sdn. Bhd. will not be held liable for any direct, indirect, consequential, special, punitive, exemplary, or any other damages arising from the use of this service and/or report.