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Marfan Syndrome Fbn1 Gene Analysis Ngs Information
You Must Know
Test Name: Marfan Syndrome Fbn1 Gene Analysis Ngs
Sample Type:
Patient:
Male,Female,Child
- Test Type: The Marfan Syndrome FBN1 Gene Analysis Next-Generation Sequencing (NGS) Test is a molecular diagnostic assay used to analyze the FBN1 gene associated with Marfan syndrome.
- Methodology: This test utilizes next-generation sequencing technology to comprehensively analyze the coding regions and exon-intron boundaries of the FBN1 gene for pathogenic variants or mutations.
- Purpose: It is employed for the molecular diagnosis and genetic screening of Marfan syndrome, a connective tissue disorder characterized by skeletal abnormalities, ocular manifestations, and cardiovascular complications.
- Sampling: Genomic DNA is extracted from the patient's blood or other tissue samples and subjected to NGS analysis to identify genetic alterations within the FBN1 gene.
- Interference Factors: Factors such as sample quality, variant allele frequency, and bioinformatics analysis pipelines may influence the accuracy and reliability of test results.
Selected Test Details
- Test Name: Marfan Syndrome Fbn1 Gene Analysis Ngs
- Sample Type:
- Patient: Male, Female, Child
About Test
- Test Type: The Marfan Syndrome FBN1 Gene Analysis Next-Generation Sequencing (NGS) Test is a molecular diagnostic assay used to analyze the FBN1 gene associated with Marfan syndrome.
- Methodology: This test utilizes next-generation sequencing technology to comprehensively analyze the coding regions and exon-intron boundaries of the FBN1 gene for pathogenic variants or mutations.
- Purpose: It is employed for the molecular diagnosis and genetic screening of Marfan syndrome, a connective tissue disorder characterized by skeletal abnormalities, ocular manifestations, and cardiovascular complications.
- Sampling: Genomic DNA is extracted from the patient's blood or other tissue samples and subjected to NGS analysis to identify genetic alterations within the FBN1 gene.
- Interference Factors: Factors such as sample quality, variant allele frequency, and bioinformatics analysis pipelines may influence the accuracy and reliability of test results.
Selected Lab Details
- Lab Name: Chennai
- Email:Labs@kauverymeds.com
- Phone:9150008394
- Mobile:9150008394
