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Reproductive Genetics

NIPT, Expanded Carrier Screening (450+ genes), PGT and prenatal diagnostics — comprehensive solutions for reproductive health.

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Expanded Carrier Screening

450+ genes • recessive + X-linked

Comprehensive panel for identifying carriers of inherited disorders.

  • Blood or saliva
  • TAT 3–4 weeks
  • Couple-based risk analysis
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NIPT

Trisomies 21,18,13 + microdeletions

Screening for aneuploidies and 90+ microdeletions.

  • Maternal blood
  • TAT 7–10 days
  • From 9 weeks gestation
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Preimplantation Genetic Testing (PGT)

PGT-A • PGT-M • PGT-SR • HLA

Embryo-level genetic analysis prior to transfer.

  • TE biopsy
  • PGT-A/M/SR
  • Embryo-level interpretation
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Prenatal Diagnostics

CVS / Amnio • diagnostic

Karyotype, CMA and targeted sequencing for high-risk pregnancies.

  • Karyotype & CMA
  • Targeted sequencing
  • TAT varies by test
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How It Works

1. Order

Clinicians order tests; pre-test counselling is advised for ECS or complex cases.

2. Sample Collection

Blood, saliva, biopsy or invasive sample depending on the test.

3. Laboratory Analysis

Performed using validated NGS, CMA, digital PCR or targeted sequencing.

4. Reporting

Structured reports shared with clinicians + counselling support.

Gene Panels & Resources

ECS includes 450+ genes including CFTR, SMN1, FMR1, HBA1/2, PAH, GJB2 and many more.

FAQ

No. NIPT is a screening test. Positive or high-risk results should be confirmed by invasive diagnostic testing (CVS or amniocentesis).

A carrier has one copy of a pathogenic variant in a gene for an autosomal recessive condition. Carriers are typically healthy, but if both partners carry the same condition there is a 25% chance an offspring will be affected.

Yes, for accurate couple-based risk calculation.
Need help choosing the right test?

Our clinical team provides full pre- and post-test genetic counselling.

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