Check Growth-Related Genetic Health

CDKN1C Gene Sequencing for Beckwith-Wiedemann Syndrome

An advanced genetic test identifying mutations in the CDKN1C gene, aiding in the early diagnosis of Beckwith-Wiedemann Syndrome to ensure optimal developmental care for your child.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6770

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the CDKN1C gene?

It is a gene crucial for regulating cell growth; mutations in it are linked to Beckwith-Wiedemann Syndrome.

• Does the test require fasting?

No, genetic sequencing tests do not require fasting or any special dietary preparations before sample collection.

• How long does it take to get results?

Due to the complexity of genetic analysis, final results typically take between 2 to 4 weeks.

• Can this test be done at home?

Yes, home sample collection is available through our specialists for your convenience.

• Does this test replace other genetic tests?

This test specifically targets the CDKN1C gene; additional tests may be recommended based on clinical findings.

• Who should undergo this test?

Children with unexplained overgrowth or specific birth defects, or families with a known history of the syndrome.

Medical Laboratories

Check Growth-Related Genetic Health

CDKN1C Gene Sequencing for Beckwith-Wiedemann Syndrome

An advanced genetic test identifying mutations in the CDKN1C gene, aiding in the early diagnosis of Beckwith-Wiedemann Syndrome to ensure optimal developmental care for your child.

Trusted medical contentUpdated: 10-11-2026Views: 0LHL-6770

View service availability

Service typeGenetic Laboratory Test

Duration15-20 minutes

Fasting / preparationFasting is not required

Home serviceAvailable

Medical notice: this information is for education and service understanding. It is not a diagnosis or a recommendation for an unnecessary procedure.

About this service

A precise laboratory test analyzing the DNA sequence of the CDKN1C gene to identify pathogenic variants linked to overgrowth syndromes, supporting accurate genetic counseling and clinical management.

Importance of the Test

Confirms the clinical diagnosis of Beckwith-Wiedemann Syndrome.
Identifies genetic mutations responsible for overgrowth.
Assists families in understanding recurrence risks for future children.

Indications for Testing

Presence of clinical signs like macroglossia or abdominal wall defects.
Family history of Beckwith-Wiedemann Syndrome.
Evaluation of neonates with persistent hypoglycemia.

Procedure Overview

A simple venous blood sample is collected.
DNA is extracted from the sample in the laboratory.
Advanced sequencing techniques are used to analyze the CDKN1C gene.

What is included?

✓Blood sample collection
✓DNA sequence analysis
✓Detailed genetic report

Conditions and notices

Fasting is not required
Previous medical reports preferred
Genetic counseling recommended before testing

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the CDKN1C gene?

It is a gene crucial for regulating cell growth; mutations in it are linked to Beckwith-Wiedemann Syndrome.

• Does the test require fasting?

No, genetic sequencing tests do not require fasting or any special dietary preparations before sample collection.

• How long does it take to get results?

Due to the complexity of genetic analysis, final results typically take between 2 to 4 weeks.

• Can this test be done at home?

Yes, home sample collection is available through our specialists for your convenience.

• Does this test replace other genetic tests?

This test specifically targets the CDKN1C gene; additional tests may be recommended based on clinical findings.

• Who should undergo this test?

Children with unexplained overgrowth or specific birth defects, or families with a known history of the syndrome.

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

American College of Medical Genetics
National Institutes of Health (NIH)

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Important Notice:

Content on LahaLak is provided for educational purposes only. It is not a medical diagnosis, prescription, or substitute for consulting a qualified clinician. Medical decisions should not be made from this content alone.

Content reviewed according to the LahaLak Quality Charter.Editorial Policy & Medical Standards

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