Carrier Screening

O tomto report

Whether you carry a variant for an inherited recessive or X-linked condition that you could pass on to your children, read from your whole genome rather than a fixed panel.

A recessive condition needs two non-working copies of a gene, one from each parent. A carrier has one working and one non-working copy and is usually healthy. When both parents carry a variant in the same gene, each child has a 1 in 4 chance of having the condition, a 1 in 2 chance of being a carrier, and a 1 in 4 chance of inheriting neither variant. For X-linked conditions, a mother who carries a variant passes it to each child with a 1 in 2 chance; sons who inherit it are usually affected.

Many carrier tests look for a fixed list of common variants. Whole genome sequencing reads each screened gene base by base, so rare and family-specific variants are read as well as common ones, and every variant is classified against ACMG guidelines, the standard clinical geneticists use.

Carrier screening is most useful before or early in a pregnancy, when planning IVF or using a donor, when a condition runs in your family, or when your ancestry carries a higher chance of particular conditions. Because it is read from the genome you have already sequenced, it needs no new sample, and a partner's results can be checked against the same genes.

Proč sekvenování celého genomu

Why read carrier status from your whole genome

Omezení

• Carrier screening lowers but does not remove the chance of having a child with an inherited condition. No screen detects every variant, and conditions caused by new (de novo) variants or by genes outside the screen are not covered.
• Some genes are hard to read with short-read sequencing because they have near-identical copies elsewhere in the genome, for example SMN1 (spinal muscular atrophy), CYP21A2 (congenital adrenal hyperplasia) and HBA1/HBA2 (alpha thalassaemia). Results in these genes may need confirmation by a targeted test.
• Fragile X syndrome is caused by a repeat expansion in FMR1 that whole genome sequencing does not size reliably. If Fragile X carrier status matters to you, ask about a dedicated FMR1 repeat test.
• A carrier result should be discussed with a genetic counsellor or doctor, and confirmed by a clinical laboratory, before any reproductive decision.

Další reports

• PharmacogenomicsABCG2, CFTR, CYP2B6, CYP2C19
• Ancestry
• Nutrigenetics
• Sleep & Chronotype
• Sports & Performance