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RIN2 Gene Macrocephaly Alopecia Cutis Laxa and Scoliosis Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RIN2 gene macrocephaly alopecia cutis laxa and scoliosis genetic test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the RIN2 gene. These mutations are associated with a rare genetic condition that manifests as a combination of symptoms including macrocephaly (an unusually large head), alopecia (hair loss), cutis laxa (loose and wrinkled skin), and scoliosis (curvature of the spine). This comprehensive test is crucial for individuals exhibiting these symptoms or those with a family history of the condition, as it aids in the accurate diagnosis and understanding of the genetic basis of their symptoms. The cost of the test is 4400 AED, reflecting the intricate processes involved in genetic analysis and the specialized expertise required to interpret the results. Conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities, this test is a vital step towards personalized medical care, enabling targeted treatment and management plans for affected individuals.

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RIN2 Gene Macrocephaly alopecia cutis laxa and scoliosis Genetic Test

At DNA Labs UAE, we offer the RIN2 Gene Macrocephaly alopecia cutis laxa and scoliosis Genetic Test at a cost of AED 4400.0.

Test Components

  • 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: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information

Before undergoing the RIN2 Gene Macrocephaly alopecia cutis laxa and scoliosis Genetic Test, it is important to provide the clinical history of the patient who is going for the test. A Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic DNA Test gene RIN2.

Test Details

The RIN2 gene is associated with a rare genetic disorder called macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome. This syndrome is characterized by several clinical features:

  1. Macrocephaly: Abnormally large head size.
  2. Alopecia: Partial or complete loss of hair.
  3. Cutis laxa: Loose, sagging, and wrinkled skin.
  4. Scoliosis: Abnormal sideways curvature of the spine.

The NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify genetic mutations or variations in the RIN2 gene. This test involves sequencing the entire coding region of the gene to identify any alterations that may be responsible for MACS syndrome. NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic diagnosis.

If a patient presents with the clinical features of macrocephaly, alopecia, cutis laxa, and scoliosis, a geneticist or healthcare provider may recommend NGS genetic testing to confirm the diagnosis. Identifying the specific mutation in the RIN2 gene can provide valuable information for the patient and their family regarding prognosis, potential complications, and possible treatment options.

Test Name RIN2 Gene Macrocephaly alopecia cutis laxa and scoliosis Genetic Test
Components
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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic DNA Test gene RIN2
Test Details

RIN2 gene is associated with a rare genetic disorder called macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome. MACS syndrome is characterized by several clinical features, including:

1. Macrocephaly: This refers to an abnormally large head size, which is often evident from birth or early childhood.

2. Alopecia: It is the partial or complete loss of hair, including scalp hair, eyebrows, and eyelashes.

3. Cutis laxa: This is a condition characterized by loose, sagging, and wrinkled skin. The skin may appear to be prematurely aged.

4. Scoliosis: It is an abnormal sideways curvature of the spine, which can lead to an asymmetrical posture and potential complications.

NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool that can be used to identify genetic mutations or variations in the RIN2 gene. This test involves sequencing the entire coding region of the gene to identify any alterations that may be responsible for MACS syndrome. NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic diagnosis.

If a patient presents with the clinical features of macrocephaly, alopecia, cutis laxa, and scoliosis, a geneticist or healthcare provider may recommend NGS genetic testing to confirm the diagnosis. Identifying the specific mutation in the RIN2 gene can provide valuable information for the patient and their family regarding prognosis, potential complications, and possible treatment options.

SKU: TEST-4217 Category:

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