Expanded Carrier Screening | Advanced 450 & Premium 620 | Cytogenomix® Malaysia
ACMG Tiers 1-4 Recommended

Expanded Carrier Screening

Comprehensive reproductive risk assessment with Advanced 450 and Premium 620 panels. Includes autosomal recessive, X-linked disorders, and Fragile X CGG repeat analysis.

447 ADVANCED 450 GENES
620 PREMIUM 620 GENES
3-4 WEEKS TAT
3mL BLOOD SAMPLE
Detects Deletions/Duplications ≥2 exons

What is Expanded Carrier Screening?

Expanded Carrier Screening (ECS) is a comprehensive genetic test that identifies individuals who carry recessive genetic variants that could be passed on to their children. When both partners are carriers of the same condition, there is a 25% chance of having an affected child.

Tier 1 Tier 2 Tier 3 Tier 4 ACMG 2021 Guidelines
  • Advanced 450: Comprehensive screening panel covering 447 genes associated with autosomal recessive and X-linked disorders
  • Premium 620: Enhanced comprehensive panel covering 620 genes for maximum detection rate
  • Fragile X Analysis: Both panels include full CGG repeat analysis for Fragile X syndrome
  • CNV Detection: Both panels detect copy number variants (CNVs) ≥2 exons
  • ACMG Tiers 1-4: Both panels meet ACMG 2021 recommendations for expanded carrier screening

Results are reported with residual risk calculations and reproductive risk assessments to guide family planning decisions.

Expanded Carrier Screening
ACMG 2021 Recommendations

Tier 1-4 Expanded Carrier Screening

Both Advanced 450 and Premium 620 panels meet the American College of Medical Genetics and Genomics (ACMG) 2021 recommendations for expanded carrier screening across all tiers, offering comprehensive assessment of:

Autosomal Recessive

573+ genes associated with AR disorders

X-Linked Disorders

46+ X-linked genes for male offspring risk

Fragile X Syndrome

Full CGG trinucleotide repeat analysis (not just PCR sizing)

CNV Detection

Deletion/duplication analysis ≥2 exons

Choose Your Panel

Two comprehensive options for expanded carrier screening

ACMG Tiers 1-4

Advanced 450

447 Genes
447 genes analyzed
Autosomal recessive disorders
X-linked disorders
Fragile X CGG repeat analysis
CNV detection (≥2 exons)
Residual risk calculations
Reproductive risk assessment

Sample Genes:

AAAS ABCA12 ABCA4 ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 XL ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACE ACOX1 ACSF3 ADA ADAMTS2 ADK AGA AGL AGPS AGXT AHCY AIRE ALDH3A2 ALDH7A1 ALDOB ALG6 +417 more
View Full Gene List
ACMG Tiers 1-4

Premium 620

620 Genes
620 genes analysed
Autosomal recessive disorders
X-linked disorders
Fragile X CGG repeat analysis
CNV detection (≥2 exons)
Residual risk calculations
Reproductive risk assessment
Enhanced coverage of ultra-rare disorders
173 additional genes beyond Advanced panel

Sample Genes:

AAAS ABCA12 ABCA3 ABCA4 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD1 XL ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACE ACOX1 ACSF3 ADA ADAMTS2 ADAMTSL4 ADGRG1 ADGRV1 ADK AGA AGL AGPS AGXT AHCY +590 more
View Full Gene List

Fragile X Analysis

Comprehensive CGG repeat analysis included in both panels

Fragile X syndrome is the most common inherited cause of intellectual disability. Both Advanced 450 and Premium 620 panels include full CGG trinucleotide repeat analysis of the FMR1 gene, providing:

  • Full mutation (CGG >200): Affected individuals
  • Premutation (55-200 CGG): Carrier status with risk of Fragile X-associated disorders
  • Intermediate (45-54 CGG): Gray zone with potential instability
  • Normal (<45 CGG): Unaffected

Important: Women with premutation alleles are at risk of having children with Fragile X syndrome and may experience Fragile X-associated primary ovarian insufficiency (FXPOI).

Fragile X CGG Repeat Analysis

Test Specifications

Technical details for both panels

Methodology

Next-Generation Sequencing (NGS) with CNV analysis

Sample Type

3 mL peripheral blood in EDTA tube (purple top)

Turnaround Time

3-4 weeks from sample receipt

Detection Rate

>99% for point mutations and indels

CNV Detection

Deletions/Duplications ≥2 exons

Guidelines

ACMG 2021 Tiers 1-4 recommendations

Who Should Consider Expanded Carrier Screening?

ACMG recommends offering ECS to all individuals considering pregnancy or during early pregnancy

Preconception Planning

Couples planning pregnancy to understand reproductive risks before conception

Early Pregnancy

Pregnant individuals in first trimester to assess fetal risk

Family History

Individuals with family history of genetic disorders

Consanguineous Relationships

Couples who are blood relatives with increased risk of recessive conditions

IVF/ART Patients

Individuals undergoing fertility treatment for informed family building

Egg/Sperm Donors

Donor screening to minimize risk of transmitting recessive conditions

Understanding Your Results

Residual risk and reproductive risk explained

Residual Risk

The probability of being a carrier for a condition even after a negative screen result, accounting for:

  • Ethnic-specific carrier frequencies
  • Test sensitivity (not 100%)
  • Panel coverage of known mutations

Reproductive Risk

When both partners are carriers of the same condition, the risk of having an affected child is:

25% for autosomal recessive
50% for X-linked in male offspring

Example: Cystic Fibrosis

Carrier frequency (Caucasian): 1 in 25 4%
Test detection rate: 99% 99%
Residual risk after negative screen: 1 in 2500

Frequently Asked Questions

Common questions about expanded carrier screening

What is the difference between Advanced 450 and Premium 620?

Premium 620 includes all 447 genes from Advanced plus an additional 173 genes covering ultra-rare disorders, providing maximum detection rate for couples seeking the most comprehensive screening available.

Should both partners be tested?

Yes, optimal screening involves testing both partners. If both are carriers for the same condition, there is a 25% chance of having an affected child. Sequential testing (test one, then the other only if positive) is also available.

How long does it take to get results?

Turnaround time is 3-4 weeks from sample receipt. Results include full reports with residual risk calculations.

Does the panel include Fragile X analysis?

Yes, both panels include full CGG trinucleotide repeat analysis of FMR1, not just PCR sizing. This detects premutation and full mutation alleles.

What is ACMG Tier 1-4?

ACMG's 2021 recommendations classify expanded carrier screening into tiers. Tiers 1-4 represent comprehensive pan-ethnic screening for all AR and X-linked conditions, with our panels covering all tiers.

What sample is required?

3 mL peripheral blood in EDTA tube (purple top). Saliva kits are also available for patients who cannot provide blood.

What does "detects deletions/duplications ≥2 exons" mean?

Our panels can identify larger genetic changes where entire exons are missing (deletions) or duplicated, which would not be detected by standard sequencing alone. This increases the detection rate for many conditions.

Ready to Learn About Your Reproductive Risk?

Our genetic counselors and reproductive genetics specialists are ready to help you understand your carrier status and reproductive options.

Schedule a Consultation View Complete Gene Lists

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