Short Description

NGS genetic DNA test detecets for variant and mutation detection in HLCS gene for Holocarboxylase synthetase deficiency

PreTest Information

Clinical History of Patient who is going for HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Holocarboxylase synthetase deficiency

Detail Description

HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test

HLCS gene holocarboxylase synthetase deficiency is a rare genetic disorder that affects the body's ability to process certain nutrients. This disorder is caused by mutations in the HLCS gene, which provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the body to process biotin, a B vitamin that plays a crucial role in metabolism.

NGS genetic DNA test is a specialized test that can identify mutations in the HLCS gene. This test uses next-generation sequencing technology to analyze the patient's DNA and identify any changes or mutations in the HLCS gene. This test is recommended for individuals who have symptoms of HLCS gene holocarboxylase synthetase deficiency or have a family history of the disorder.

Symptoms of HLCS Gene Holocarboxylase Synthetase Deficiency

The symptoms of HLCS gene holocarboxylase synthetase deficiency can vary from mild to severe and can include:

• Poor feeding
• Vomiting
• Lethargy
• Hypotonia (low muscle tone)
• Developmental delays
• Seizures

If left untreated, HLCS gene holocarboxylase synthetase deficiency can lead to serious complications, including neurological damage, kidney failure, and even death.

Diagnosis of HLCS Gene Holocarboxylase Synthetase Deficiency

HLCS gene holocarboxylase synthetase deficiency can be diagnosed through genetic testing, including NGS genetic DNA testing. A blood sample is taken from the patient, and the DNA is analyzed for mutations in the HLCS gene. If a mutation is found, the patient is diagnosed with HLCS gene holocarboxylase synthetase deficiency.

Cost of NGS Genetic DNA Test for HLCS Gene Holocarboxylase Synthetase Deficiency

The cost of NGS genetic DNA testing for HLCS gene holocarboxylase synthetase deficiency in India is INR 20,000. This cost may vary depending on the testing facility and location.

If you or your child have symptoms of HLCS gene holocarboxylase synthetase deficiency or have a family history of the disorder, it is recommended to get tested for the condition. DNA Labs India provides NGS genetic DNA testing for HLCS gene holocarboxylase synthetase deficiency. Contact us today to schedule an appointment.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic DNA Test