Short Description

NGS genetic DNA test detecets for variant and mutation detection in MPLKIP gene for Trichothiodystrophy, nonphotosensitive type 1

PreTest Information

Clinical History of Patient who is going for MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic DNA Test gene MPLKIP

Detail Description

MPLKIP Gene Trichothiodystrophy, Nonphotosensitive Type 1 NGS Genetic DNA Test

Trichothiodystrophy (TTD) is a rare genetic disorder that affects the hair, skin, and nails. It is caused by mutations in genes involved in DNA repair and transcription. TTD can be divided into two types: photosensitive and nonphotosensitive. The nonphotosensitive type 1 TTD is caused by mutations in the MPLKIP gene.

Symptoms

The symptoms of nonphotosensitive type 1 TTD can vary widely from person to person. Some of the common symptoms include:

• Brittle hair and nails
• Dry, scaly skin
• Delayed growth and development
• Mental retardation
• Increased susceptibility to infections
• Eye problems such as cataracts and photophobia

These symptoms may not be present at birth and may develop over time. They may also vary in severity, even among family members with the same genetic mutation.

Diagnosis

Diagnosis of nonphotosensitive type 1 TTD is based on clinical symptoms and genetic testing. A skin biopsy may also be performed to examine the structure of hair shafts.

Genetic testing involves analyzing the MPLKIP gene for mutations. Next-generation sequencing (NGS) is a technique used to sequence the entire MPLKIP gene quickly and accurately. This can help identify mutations that may be missed by other genetic testing methods.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for nonphotosensitive type 1 TTD at DNA Labs India is INR 20,000. This test includes sequencing of the entire MPLKIP gene and analysis for mutations.

Conclusion

Nonphotosensitive type 1 TTD is a rare genetic disorder that can cause a variety of symptoms, including brittle hair and nails, dry skin, and mental retardation. Diagnosis is based on clinical symptoms and genetic testing, including NGS sequencing of the MPLKIP gene. DNA Labs India offers NGS genetic DNA testing for nonphotosensitive type 1 TTD at a cost of INR 20,000.

Early diagnosis can help manage symptoms and improve quality of life for those with nonphotosensitive type 1 TTD. If you or a loved one are experiencing symptoms of TTD, speak with a healthcare provider about genetic testing options.

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 MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic DNA Test