POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test
Components: POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test type: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C
Test Details
POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C (LGMDR12C) is a rare genetic disorder characterized by progressive muscle weakness and wasting primarily affecting the muscles of the limbs. It is caused by mutations in the POMK gene, which is involved in the glycosylation of proteins necessary for normal muscle function.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variations. In the case of LGMDR12C, NGS genetic testing can identify mutations in the POMK gene that are associated with the disorder. This type of testing allows for a comprehensive analysis of multiple genes, providing a more efficient and cost-effective approach compared to traditional sequencing methods.
NGS genetic testing for LGMDR12C can be performed using a DNA sample, typically obtained through a blood or saliva sample. The DNA is sequenced, and the resulting data is analyzed to identify any mutations or variations in the POMK gene that may be causative or associated with the condition.
The results of the NGS genetic test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis of LGMDR12C and provide information about the specific genetic variant involved. This information can also be useful for predicting disease progression, assessing the risk of recurrence in future pregnancies, and guiding potential therapeutic interventions.
It is important to note that NGS genetic testing for LGMDR12C is typically performed by specialized laboratories or genetic testing centers. A healthcare professional, such as a genetic counselor or medical geneticist, can help determine if this test is appropriate and guide individuals through the testing process.
| Test Name | POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C |
| Test Details |
POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C (LGMDR12C) is a rare genetic disorder characterized by progressive muscle weakness and wasting primarily affecting the muscles of the limbs. It is caused by mutations in the POMK gene, which is involved in the glycosylation of proteins necessary for normal muscle function. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variations. In the case of LGMDR12C, NGS genetic testing can identify mutations in the POMK gene that are associated with the disorder. This type of testing allows for a comprehensive analysis of multiple genes, providing a more efficient and cost-effective approach compared to traditional sequencing methods. NGS genetic testing for LGMDR12C can be performed using a DNA sample, typically obtained through a blood or saliva sample. The DNA is sequenced, and the resulting data is analyzed to identify any mutations or variations in the POMK gene that may be causative or associated with the condition. The results of the NGS genetic test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis of LGMDR12C and provide information about the specific genetic variant involved. This information can also be useful for predicting disease progression, assessing the risk of recurrence in future pregnancies, and guiding potential therapeutic interventions. It is important to note that NGS genetic testing for LGMDR12C is typically performed by specialized laboratories or genetic testing centers. A healthcare professional, such as a genetic counselor or medical geneticist, can help determine if this test is appropriate and guide individuals through the testing process. |
