Family & Pregnancy

Carrier screening

A genetic test that identifies whether a person carries mutations linked to hereditary diseases – even if the individual is healthy.

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Description

Carrier screening examines genetic alterations that can cause recessive or X-linked disorders, where carriers are often asymptomatic. This is an important preventive test that enables the identification of genetic risks prior to pregnancy. If both partners carry mutations for the same condition, there is a risk the child may be affected, which carrier screening helps to prevent.

The test is intended for laboratories and clinics that want to offer couples reliable and fast insight into their genetic profile before family planning. Through screening, informed decisions can be made and preventive measures initiated if needed, such as IVF with embryo genetic testing, prenatal diagnostics, or use of donated gametes.

Carrier screening typically covers a large number of genetic conditions such as cystic fibrosis, spinal muscular atrophy (SMA), hemoglobinopathies, as well as metabolic and neuromuscular diseases. Large panels may include several hundred genes, analyzed using advanced sequencing technology (NGS).

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Spinal muscular atrophy MLPA, Fragile X syndrome direct triplet-primed PCR method, Duchenne muscular dystrophy MLPA, 21-hydroxylase deficiency MLPA, Alpha-thalassemia MLPA, Whole exome sequencing 780 genes (WES) (DUO) – Copy Number Variation (CNV) (DUO), HLA analysis (DUO). Thrombophilia analysis.

Benefits

Identifies carriers of recessive and X-linked genetic diseases
Enables early risk assessment prior to pregnancy
Supports informed decisions and family planning
Covers a broad spectrum of genetic conditions
Utilizes advanced NGS technology for high precision
Easily integrates into existing laboratory workflows

Process

Sample collection is performed via standard blood or saliva samples, easily done at the clinic. DNA is then analyzed using Next Generation Sequencing (NGS), simultaneously examining hundreds of genes. The results are compiled into a report indicating whether the individual is a carrier or not, and may include recommendations.

If a carrier status is detected, genetic counseling is offered to clarify risk levels, inheritance patterns, and possible options for pregnancy planning. This support assists clinics and patients in making well-informed decisions.

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Specimen Requirements

Preferred Specimen

  • 2–4 mL peripheral whole blood collected in EDTA anticoagulant tube

Alternative Specimen

  • Purified genomic DNA
    • Minimum quantity: 1 µg
    • Concentration: 100–250 ng/µL
    • Buffer: TE, AE, or sterile nuclease-free water
    • Purity: A260/A280 ratio 1.8–2.0
    • Integrity: High molecular weight DNA verified by agarose gel electrophoresis (single intact band, no degradation)
    • Submission should include quantitative DNA marker confirmation

Suboptimal specimens may delay processing or require recollection.

Turnaround Time (TAT)

  • 6–9 weeks from receipt of acceptable specimen and completed documentation.

Reporting

The clinical report includes:

  • Identified pathogenic/likely pathogenic variants
  • Zygosity
  • Gene-disease association
  • Inheritance pattern
  • Clinical interpretation
  • Residual risk discussion (when applicable)
  • Recommendations for partner testing and/or genetic counseling

Limitations

  • Deep intronic, promoter, regulatory, and epigenetic variants are not routinely analyzed unless specified.
  • Balanced translocations, repeat expansions, and low-level mosaicism may not be detected.
  • Analytical sensitivity may vary depending on genomic region characteristics (e.g., GC-rich regions, pseudogenes).

How it works

After sample collection, the specimens are sent to the laboratory for DNA extraction and sequencing. The advanced technology enables simultaneous analysis of numerous genetic variants associated with hereditary diseases. Results are reviewed and interpreted by specialist laboratories before reporting.

The report is then delivered to the ordering clinic or healthcare provider, who communicates the results to the patient. Genetic counseling can be offered as a complementary service to provide further support in decision-making and management.

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Methodology

Technology Platform:

  • Massively Parallel Sequencing (Next-Generation Sequencing, NGS)

Genomic Coverage:

  • Full coding regions (exonic sequences)
  • Exon–intron boundaries (± defined bp according to panel design specifications)

Variant Types Detected:

  • Single Nucleotide Variants (SNVs)
  • Small insertions and deletions (indels)
  • Copy Number Variations (CNVs) via read-depth analysis

Bioinformatics Pipeline:

  • Alignment to reference genome (GRCh37 or GRCh38, as specified in report)
  • Variant calling using validated clinical-grade pipelines
  • CNV detection based on normalized read-depth algorithms
  • Variant annotation according to HGVS nomenclature

Variant Classification:

  • Interpreted and classified in accordance with ACMG/AMP guidelines
  • Reported categories: Pathogenic, Likely Pathogenic, VUS (if applicable per reporting policy)

Clinical Indications

Carrier screening is indicated for:

  • Asymptomatic individuals with a family history of an identified autosomal recessive or X-linked disorder
  • Reproductive partners of known carriers
  • Preconception or prenatal family planning
  • Individuals from populations with increased carrier frequency of specific genetic conditions
  • Referral for genetic counselling and reproductive risk assessment

The assay determines carrier status for autosomal recessive and X-linked disorders, supporting reproductive risk calculation and informed clinical decision-making.

Carrier screening
Consultation for clinics