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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days the report can be obtained for the test Smith Lemli Opitz Syndrome (SLOS) Test is 14 days.

What are the prerequisites for the test Smith Lemli Opitz Syndrome (SLOS) Test

  • Confirmation of clinical suspicion of Smith-Lemli-Opitz Syndrome (SLOS) based on physical examination and medical history
  • Consent from the patient or legal guardian for genetic testing
  • Prescription from a healthcare provider for the SLOS test
  • Availability of a laboratory certified to perform the SLOS test
  • Proper sample collection kit provided by the laboratory
  • Proper storage and transportation of the sample to the laboratory

What are the measure values for the test Smith Lemli Opitz Syndrome (SLOS) Test

  • Low cholesterol levels
  • Elevated 7-dehydrocholesterol levels
  • Presence of characteristic physical features such as cleft palate, syndactyly, and microcephaly
  • Developmental delays and intellectual disabilities
  • Heart defects

What does this test Smith Lemli Opitz Syndrome (SLOS) Test identify?

Smith Lemli Opitz Syndrome (SLOS) Test

The Smith Lemli Opitz Syndrome (SLOS) Test is a genetic test that identifies mutations in the DHCR7 gene, which is responsible for encoding an enzyme called 7-dehydrocholesterol reductase. This enzyme is involved in the production of cholesterol in the body.

SLOS is a rare genetic disorder that affects the body's ability to produce cholesterol. Cholesterol is an essential component of cell membranes and is also a precursor to important molecules such as hormones and vitamin D. Individuals with SLOS have low levels of cholesterol in their blood and tissues, which can lead to a variety of symptoms including developmental delays, intellectual disability, distinctive facial features, and organ malformations.

The SLOS Test can help diagnose individuals with suspected SLOS by identifying mutations in the DHCR7 gene. Early diagnosis of SLOS is important for providing appropriate medical management and support for affected individuals and their families.

Why is this test Smith Lemli Opitz Syndrome (SLOS) Test taken?

Smith Lemli Opitz Syndrome (SLOS) Test

The Smith Lemli Opitz Syndrome (SLOS) Test is taken to diagnose Smith Lemli Opitz Syndrome, a rare genetic disorder that affects cholesterol synthesis in the body. This syndrome is caused by mutations in the DHCR7 gene, which leads to a deficiency in the enzyme 7-dehydrocholesterol reductase.

Individuals with SLOS may experience a range of symptoms including intellectual disability, developmental delays, distinctive facial features, growth retardation, and organ abnormalities. The severity of symptoms can vary widely among affected individuals.

Diagnosis of SLOS is typically confirmed through genetic testing to identify mutations in the DHCR7 gene. This test can help healthcare providers accurately diagnose the syndrome and develop appropriate treatment and management plans for affected individuals.

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