Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCNT gene for Microcephalic osteodysplastic primordial dwarfism type 2

PreTest Information

Clinical History of Patient who is going for PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test gene PCNT

Detail Description

PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Microcephalic osteodysplastic primordial dwarfism type 2 is a rare genetic disorder that is caused by mutations in the PCNT gene. This disorder is characterized by severe growth and developmental delays, small head size, and skeletal abnormalities.

Symptoms of Microcephalic osteodysplastic primordial dwarfism type 2

• Severe growth delays
• Small head size (microcephaly)
• Abnormal skeletal development
• Intellectual disability
• Delayed motor development
• Distinct facial features (such as a prominent nose and forehead)
• Short stature

Diagnosis of Microcephalic osteodysplastic primordial dwarfism type 2

Diagnosis of Microcephalic osteodysplastic primordial dwarfism type 2 is typically done through genetic testing. NGS Genetic DNA Test is the most common type of test used to diagnose this disorder. This test looks for mutations in the PCNT gene, which is responsible for this disorder.

NGS Genetic DNA Test cost for Microcephalic osteodysplastic primordial dwarfism type 2

The cost of NGS Genetic DNA Test for Microcephalic osteodysplastic primordial dwarfism type 2 is INR:20000 in DNA Labs India. This cost includes the cost of testing and genetic counseling.

Conclusion

Microcephalic osteodysplastic primordial dwarfism type 2 is a rare genetic disorder that can have serious implications for a person's health. If you or someone you know is experiencing symptoms of this disorder, it is important to seek medical attention. DNA Labs India provides NGS Genetic DNA Test for Microcephalic osteodysplastic primordial dwarfism type 2 at an affordable cost of INR:20000.

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 PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test