Reprooductive genetics

Pre-Conception & Carrier Screening

Expanded Carrier Screening (ECS) – Single & Couple
Targeted Carrier Screening for:
Beta Thalassemia
Alpha Thalassemia
Spinal Muscular Atrophy (SMA)
Cystic Fibrosis (CF)
Duchenne / Becker Muscular Dystrophy (DMD)
Fragile X Syndrome
Congenital Adrenal Hyperplasia (CAH)
Huntington Disease
Spinocerebellar Ataxia (SCA) Panel

Prenatal Genetic Testing

Non-Invasive Prenatal Testing (NIPT / NIPS)
Invasive Prenatal Testing:
Prenatal QF-PCR/FISH (Rapid Aneuploidy Testing)
Prenatal Karyotyping
GeNArray Affymetrix Chromosomal Microarray Analysis (CMA)
Prenatal MLPA (Targeted deletion/duplication analysis)
Prenatal Whole Exome Sequencing (WES)
Targeted Mutation Analysis (based on family history / previous child)

Assisted Reproduction & IVF-Related Testing

Preimplantation Genetic Testing for Aneuploidy (PGT-A)
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
Embryo Aneuploidy Screening
Parental Balanced Translocation Testing

Postnatal & Pregnancy Loss Evaluation

Couple Karyotype

Products of Conception (POC) Testing:
Karyotyping
Chromosomal Microarray (CMA)
QF-PCR
Recurrent Pregnancy Loss (RPL) Panel
UPD / ROH / Consanguinity Analysis
Single Gene Disorder Confirmation

Advanced & Specialised Testing

Whole Exome Sequencing (WES) – Trio / Duo / Proband
Targeted NGS Panels for Reproductive Disorders
Mitochondrial Disorders Testing
X-Linked Disorders Analysis
Variant Segregation Studies
ACMG-Compliant Clinical Interpretation & Genetic Counseling

Genetic Counseling Services

Pre-test & Post-test Genetic Counseling
Reproductive Risk Assessment
IVF & High-Risk Pregnancy Counseling
Family Planning & Future Pregnancy Guidance