CANTU SYNDROME (ABCC9) GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited   
The Cantu Syndrome (ABCC9) Gene Panel by NGS from Metropolis Healthcare detects mutations in the ABCC9 gene, which are associated with Cantu syndrome—a rare genetic disorder. This condition can cause hypertrichosis, distinctive facial features, congenital heart defects, and skeletal abnormalities. The test is performed on an EDTA blood sample using advanced Next Generation Sequencing for accurate identification of pathogenic variants. Metropolis Healthcare provides precise results to support early diagnosis, clinical management, and genetic counselling

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Price: Rs. 23,100.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0098

Frequently Asked Questions (FAQ's):

What is Cantu Syndrome?
Cantu Syndrome is a rare genetic disorder caused by mutations in the ABCC9 gene, leading to hypertrichosis, heart defects, and skeletal abnormalities.

Which gene is tested in this panel?
The ABCC9 gene is analyzed, as mutations in this gene are the primary cause of Cantu Syndrome.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-accuracy NGS technology to detect point mutations, deletions, and duplications in the ABCC9 gene.

What sample type is required?
An EDTA whole blood sample is needed for DNA extraction and sequencing.

Who should consider this test?
Individuals with excessive hair growth, congenital heart defects, distinctive facial features, or a family history of Cantu Syndrome.

Is any preparation required before the test?
No fasting or special preparation is required.

How long do results take at Metropolis Healthcare?
Results are typically available within a few working days depending on laboratory workflow.

How will the results help?
They confirm diagnosis, guide clinical management, and provide information for genetic counselling and family planning

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