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  • Comprehensive Screen Duo with FMR1 Repeat expansion

Comprehensive Screen Duo with FMR1 Repeat expansion

(4 Customer Reviews)
$0.00

Is a 461-gene test for couples who want information about their chances of having a child with an autosomal recessive or X-linked genetic condition. This type of test is sometimes called carrier screening. This test includes the analysis of the CGG repeat region in the 5’-UTR of the FMR1 gene using PCR amplification and fragment size analysis to determine CGG repeat length. 

Duo report will combine results of the two tested individuals, to provide reproductive risk assessment for a couple in one test. FMR1 repeat expansion analysis will be performed only for the female individual.

Quantity
Duration

N/A

Home Sample

Not Available

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Is a 461-gene test for couples who want information about their chances of having a child with an autosomal recessive or X-linked genetic condition. This type of test is sometimes called carrier screening. This test includes the analysis of the CGG repeat region in the 5’-UTR of the FMR1 gene using PCR amplification and fragment size analysis to determine CGG repeat length. 

Duo report will combine results of the two tested individuals, to provide reproductive risk assessment for a couple in one test. FMR1 repeat expansion analysis will be performed only for the female individual.

Test Duration: N/A

Home Sample Collection: No

Category: Carrier Screening

Lab: N/A

Price: $0.00

Test Features

Carrier screening is a genetic test that helps determine whether an individual or couple carries inherited genetic conditions that could be passed on to their children. Most carriers are healthy and have no symptoms, often unaware they carry a genetic mutation. This test provides valuable information for family planning, fertility treatment, pregnancy preparation, and reproductive decision-making.

Carrier screening analyses specific genes associated with inherited disorders. If both partners carry mutations in the same gene, there may be an increased chance of having a child affected by that condition. Carrier screening can identify the risk for a wide range of genetic conditions, including: Cystic Fibrosis (CF) Spinal Muscular Atrophy (SMA) Fragile X Syndrome Thalassemia Sickle Cell Disease Tay-Sachs Disease Duchenne Muscular Dystrophy Hundreds of additional inherited disorders depending on the panel selected

Carrier screening may be recommended for: Couples planning a pregnancy Individuals undergoing IVF or fertility treatment Donor egg or sperm recipients Individuals with a family history of genetic disorders Couples with recurrent pregnancy loss People from ethnic groups with higher prevalence of certain inherited conditions Anyone seeking greater reproductive confidence and clarity

Carrier screening is ideally performed before pregnancy, allowing couples to fully understand their reproductive options. However, testing can also be carried out during pregnancy. Early testing provides more time for informed planning and medical guidance.

The test is simple and non-invasive, usually requiring: A blood sample, or A saliva sample Advanced genetic sequencing technology is used to analyse selected genes associated with inherited conditions. Results are reviewed by experienced laboratory specialists and may include genetic counselling support where appropriate.

Helps identify hidden inherited risks Supports informed family planning decisions Provides clarity before fertility treatment or pregnancy Enables early medical planning and intervention Reduces uncertainty for prospective parents

Negative Result A negative result significantly reduces the likelihood of being a carrier for the conditions tested, although no test can eliminate risk completely. Positive Result A positive result means you carry a genetic variant linked to a specific inherited condition. Additional partner testing and genetic counselling may be recommended.

Comprehensive genetic panels Advanced sequencing technology Accurate and confidential testing Fast turnaround times Expert clinical and laboratory support Personalised genetic counselling options

Carrier screening empowers you with knowledge before starting or expanding your family. Speak with our team to learn which screening panel is most appropriate for your needs. Book your carrier screening test today and make informed decisions with confidence.

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