Short Description

List of genes tested using NGS technology for detection of variant and mutation in Connective Tissue and Related disorders Panel are ABCC6, ACTA2, ADAMTS2, ADAMTSL2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CREB3L1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GORAB, ITGB4, KCNJ13, LAMA3, LAMB3, LAMC2, LOX, LRP2, MAT2A, MBTPS2, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VCAN, WNT1, ZNF469

PreTest Information

Clinical History of Patient who is going for Connective Tissue and Related disorders Panel NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC6, ACTA2, ADAMTS2, ADAMTSL2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CREB3L1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GORAB, ITGB4, KCNJ13, LAMA3, LAMB3, LAMC2, LOX, LRP2, MAT2A, MBTPS2, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VCAN, WNT1, ZNF469

Detail Description

Connective Tissue and Related Disorders Panel NGS Genetic DNA Test

Connective tissue disorders are a group of diseases that affect the tissues that connect, support, and anchor the body's organs and tissues. These disorders are caused by genetic mutations that affect the production and structure of the connective tissue. If left untreated, these disorders can lead to severe health problems and complications.

At DNA Labs India, we offer a Connective Tissue and Related Disorders Panel NGS Genetic DNA Test to diagnose these disorders. This test uses next-generation sequencing (NGS) technology to analyze the genes responsible for connective tissue production and structure. The test can detect genetic mutations that cause connective tissue disorders, including:

• Ehlers-Danlos syndrome
• Marfan syndrome
• Stickler syndrome
• Larsen syndrome
• Osteogenesis imperfecta
• And more

The test is non-invasive and requires only a small blood sample. The sample is sent to our state-of-the-art laboratory, where our team of experts performs the analysis. Results are typically available within 2-3 weeks.

Symptoms of Connective Tissue Disorders

The symptoms of connective tissue disorders vary depending on the specific disorder and the severity of the condition. However, common symptoms include:

• Joint pain and stiffness
• Joint hypermobility
• Skin that bruises easily
• Weakness in the muscles
• Recurrent dislocations of joints
• Bluish sclera (whites of the eyes)
• Heart valve abnormalities
• Eye problems, such as nearsightedness and cataracts

If you experience any of these symptoms, it is important to consult with a medical professional for proper diagnosis and treatment.

Diagnosis and Treatment

Connective tissue disorders can be diagnosed through a combination of physical examination, medical history, and genetic testing. The Connective Tissue and Related Disorders Panel NGS Genetic DNA Test offered by DNA Labs India can help diagnose these disorders by detecting genetic mutations that cause connective tissue problems.

Once diagnosed, treatment options for connective tissue disorders may include medication, physical therapy, and surgery. The specific treatment plan will depend on the type and severity of the disorder.

Cost of the Connective Tissue and Related Disorders Panel NGS Genetic DNA Test

The cost of the Connective Tissue and Related Disorders Panel NGS Genetic DNA Test at DNA Labs India is INR 20,000. This cost includes the analysis of the blood sample and the report of the results.

Conclusion

Connective tissue disorders can cause a range of health problems and complications if left untreated. The Connective Tissue and Related Disorders Panel NGS Genetic DNA Test offered by DNA Labs India can help diagnose these disorders by detecting genetic mutations that cause connective tissue problems. If you experience any symptoms of a connective tissue disorder, it is important to consult with a medical professional for proper diagnosis and treatment.