Carpenter Syndrome Panel-NGS in Ratlam

Sterling Accuris Diagnostics offers the Carpenter Syndrome Panel-NGS Test in Ratlam to detect carpenter syndrome.

Overview of Carpenter Syndrome Panel-NGS Test

Carpenter syndrome is an atypical genetic condition that is inheritedalso known as Craniosynostosis, a congenital condition that happens when skull bones fuse too early, before a baby's brain fully develops. If the bones fuse too soon, a newborn with Carpenter syndrome may grow up with a malformed skull and asymmetrical facial characteristics. Carpenter syndrome can also result in cardiac problems, hearing loss, intellectual incapacity, and abnormalities of the fingers and toes, among other problems. An alternative name for the condition is acrocephalopolysyndactyly, type II (ACPS II). An inherited genetic condition called Carpenter syndrome is passed down from family members. It is associated with a mutation in one of the two genes: MEGF8 or RAB23. 

Get a Carpenter Syndrome Panel-NGS test near you to rule out any further complications that may lead to serious diseases. For accurate and precise test results head on to Sterling Accuris Diagnostics for the Carpenter Syndrome Panel-NGS Test in Ratlam

Why and when is the Carpenter Syndrome Panel-NGS Test done?

The health care practitioner may recommend this test since genetic testing of these genes may confirm a diagnosis and aid guide treatment and medical management. Genetic counselling and recurrence-risk assessment can be affected by the eventual identification of a disease-causing variation.

Carpenter syndrome symptoms typically appear at birth or soon after. Even among members of the same family, they differ greatly. While some may just show a few minor symptoms, others may be severely disabled.

Numerous body areas may be impacted by the illness. Among the skeletal indicators are:

• Anomalies of the face.
• Distinctive features of the hands, including webbed fingers or toes, or extra fingers (polydactyly).
• Hip deformities.
• Dental anomalies, such as underdeveloped jawbones or tiny teeth.
• An abnormally shaped head such as a cloverleaf-shaped head, acrocephaly, brachycephaly.

Other indications could be:

• Anomalies in the genitalia, such testicles that don't descend.
• Loss of hearing.
• Heart defects, such as ventricular or atrial septal defects.
  
• A spectrum of intellectual disability, from modest to severe.
  
• Fatality
• An internal hernia.

Carpenter Syndrome Panel-NGS Test: Main Highlights

• Instructions:No specific preparation is required for this test.
• Recommended Age: Any age group
• Sample type for test: Whole blood EDTA  tube , Saliva, buccal swab, and gDNA
• TAT: 21 days

FAQs

How frequent does Carpenter syndrome occur?

The Carpenter syndrome is usually uncommon. About 70 cases have been recorded by professionals in medical literature thus far.

Why should I book Carpenter Syndrome Panel-NGS Test with Sterling Accuris Diagnostics in Ratlam?

Sterling Accuris Diagnostics is at the forefront of pathology services in India, with international quality standards. Our NABL-accredited laboratory specializes in providing quick and reliable primary diagnosis support for hospitals, physicians and other healthcare facilities across the country.

It is extremely convenient to book a Carpenter Syndrome Panel-NGS Test with us that would give you accurate and precise results at a great price.