CarrierSeq - Preconception screening for autosomal recessive genetic diseases

Please note that independent interpretation of test results is not permitted; the information provided below is for informational purposes only.

CarrierSeq - preconception screening for autosomal recessive genetic disorders - is a modern genetic test that identifies whether a person is a carrier of hereditary conditions that could be passed on to a future child.

The test is especially recommended for couples planning a pregnancy, even if there is no known history of genetic disorders in the family. Many people can be healthy carriers of mutations without knowing it.

The test is performed using a blood sample and molecular genetic methods to analyze a wide range of genes associated with severe hereditary disorders (e.g., cystic fibrosis, spinal muscular atrophy, and other autosomal recessive conditions).

The results help:

• assess genetic risks for a future child

• plan a pregnancy more consciously

• receive genetic counseling if necessary

• consider reproductive strategies to reduce risk

Indications

• planning a pregnancy

• preparation for IVF / ART programs

• preconception genetic screening for couples

• family history of hereditary disorders

• recommendation by a geneticist

• desire to assess genetic risks for a future child

Procedure

• venous blood collection

• DNA extraction from the sample

• genetic analysis using sequencing methods

• analysis of genes associated with autosomal recessive disorders

• preparation of laboratory report

• genetic counseling if necessary
   

Sources:

https://www.nature.com/articles/s41436-021-01203-z
https://www.acog.org/womens-health/faqs/carrier-screening
https://health.clevelandclinic.org/foods-high-in-vitamin-k
https://www.npr.org/sections/health-shots/2024/04/25/1247021109/states-find-a-downside-to-mandatory-reporting-laws-meant-to-protect-children

IMPORTANT!

It is crucial to remember that the information provided here is not intended for self-diagnosis or self-treatment. If you experience any symptoms or a flare-up of a condition, it is essential to consult a healthcare professional for proper diagnosis and treatment. Only a qualified specialist can provide an accurate diagnosis and determine the appropriate course of treatment. To ensure the most accurate and consistent evaluation of test results, it is recommended to conduct tests at the same laboratory. This is because different laboratories may use varying methods and units of measurement for similar tests.