AC

Clinical Area · Reproductive Genetics

Chromosomal and reproductive genetic testing

Reproductive genetics testing encompasses chromosomal microarray for developmental indications, pregnancy loss analysis, and selected genomic pathways for couples and families navigating reproductive decisions. Testing is coordinated through internationally accredited reference laboratories with local clinical support.

Chromosomal microarray (CMA)

SNP microarray for detection of copy number variants (deletions and duplications) at a resolution significantly higher than conventional karyotype. Used for developmental delay, autism, and congenital anomalies.

Pregnancy loss analysis

All-chromosome deletion/duplication analysis from products of conception. Provides a chromosomal explanation for miscarriage when available, supporting counseling and subsequent pregnancy planning.

Extended SNP microarray

The Bebegene panel covers hundreds of chromosomal abnormalities and over 1000 microdeletions/duplications — useful for broader chromosomal characterization when indicated.

Clinical indications

When to consider reproductive genetics testing

Developmental delay, intellectual disability, or autism spectrum disorder — CMA evaluation

Congenital anomalies identified prenatally or postnatally

Recurrent pregnancy loss — chromosomal analysis of products of conception

Couples undergoing IVF — preimplantation genetic testing pathway

Abnormal prenatal ultrasound findings requiring chromosomal context

Parental chromosomal rearrangement — offspring risk assessment

Available tests

Reproductive genetics tests through AC

3billion

Bebegene Extended (1001 Microdeletions)

SNP microarray covering hundreds of chromosomal abnormalities and 1001 microdeletions/duplications.

Specimen: EDTA whole blood

TAT: 10–14 days

EDGC

Chromosomal Microarray — EDGC (CMA)

Chromosomal microarray for developmental delay, autism spectrum disorder, congenital anomalies, and related indications.

Specimen: EDTA blood / gDNA / amniotic fluid

TAT: 12–18 days

EDGC

Pregnancy Loss (All Chromosome, NGS)

All-chromosome deletion/duplication analysis for products of conception and pregnancy loss evaluation.

Specimen: Streck cfDNA tube

TAT: 10–12 days

Reproductive genetics

Discuss a case or set up a pathway

For IVF centers, obstetricians, and clinical genetics teams. Share the clinical indication and specimen type — AC will help identify the appropriate testing route.

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