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Galactosemia Panel 2 Test

790 د.إ

-9%

The Galactosemia Panel 2 Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect and analyze genetic mutations associated with Galactosemia, a rare genetic metabolic disorder. This condition affects the body’s ability to process and convert galactose, a sugar found in milk and other dairy products, into glucose, an essential energy source for the body’s cells. Individuals with Galactosemia may experience a range of symptoms from mild to severe, including liver dysfunction, cataracts, and developmental issues, if not diagnosed and managed properly.

DNA Labs UAE, utilizing advanced genetic testing technologies, performs the Galactosemia Panel 2 Test to identify specific gene mutations responsible for this condition, providing crucial information for early diagnosis and intervention. The test is priced at 790 AED, reflecting the comprehensive nature of the analysis and the sophisticated tools and expertise required to conduct it. Early detection through such tests can significantly impact the management of Galactosemia, enabling tailored dietary restrictions and treatments that can improve the quality of life and prevent severe complications associated with the disorder.

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GALACTOSEMIA PANEL 2 Test

Test Name: GALACTOSEMIA PANEL 2 Test

Components:

  • Galactosemia Screening
  • Galactosemia Classical (Transferase)
  • Galactose Plasma

Price: 790.0 AED

Sample Condition:

  • 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube
  • 4 mL (2 mL min.) CONTROL blood from 1 Green Top (Sodium Heparin) tube
  • 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube

Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Report Delivery: Sample Daily by 4 pm; Report 5 days

Method: Spot Test, Enzyme assay

Test type: Inborn errors of metabolism

Doctor: Pediatrician

Test Department: GENETIC

Pre Test Information: Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Test Details

The Galactosemia Panel 2 Test is a diagnostic test used to detect mutations in the genes associated with galactosemia, a rare genetic disorder. Galactosemia is characterized by the body’s inability to break down galactose, a sugar found in milk and other dairy products.

The Galactosemia Panel 2 Test analyzes specific genes, including GALT, GALK1, and GALE, which are involved in the metabolism of galactose. Mutations in these genes can lead to a deficiency in enzymes necessary for galactose metabolism, resulting in the accumulation of galactose in the body.

The test is typically performed on individuals suspected of having galactosemia, especially newborns who may present with symptoms such as jaundice, vomiting, and failure to thrive. Early detection and diagnosis are crucial, as galactosemia can lead to severe complications if left untreated.

The Galactosemia Panel 2 Test is usually conducted using a blood sample. The sample is sent to a laboratory, where it undergoes genetic analysis to identify any mutations in the genes associated with galactosemia.

The results of the test can help healthcare providers determine the appropriate treatment and management plan for individuals with galactosemia.

It is important to note that the Galactosemia Panel 2 Test specifically analyzes the genes included in the panel and may not detect all possible mutations associated with galactosemia. Additional testing or consultation with a genetic specialist may be required for a comprehensive evaluation.

Test Name GALACTOSEMIA PANEL 2 Test
Components *Galactosemia Screening*Galactosemia Classical (Transferase)*Galactose Plasma
Price 790.0 AED
Sample Condition 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube AND 4 mL (2 mL min.) CONTROL blood from 1 Green Top (Sodium Heparin) tube AND2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.
Report Delivery Sample Daily by 4 pm; Report 5 days
Method Spot Test, Enzyme assay
Test type Inborn errors of metabolism
Doctor Pediatrician
Test Department: GENETIC
Pre Test Information Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.
Test Details

The Galactosemia Panel 2 Test is a diagnostic test used to detect mutations in the genes associated with galactosemia, a rare genetic disorder. Galactosemia is characterized by the body’s inability to break down galactose, a sugar found in milk and other dairy products.

The Galactosemia Panel 2 Test analyzes specific genes, including GALT, GALK1, and GALE, which are involved in the metabolism of galactose. Mutations in these genes can lead to a deficiency in enzymes necessary for galactose metabolism, resulting in the accumulation of galactose in the body.

The test is typically performed on individuals suspected of having galactosemia, especially newborns who may present with symptoms such as jaundice, vomiting, and failure to thrive. Early detection and diagnosis are crucial, as galactosemia can lead to severe complications if left untreated.

The Galactosemia Panel 2 Test is usually conducted using a blood sample. The sample is sent to a laboratory, where it undergoes genetic analysis to identify any mutations in the genes associated with galactosemia. The results of the test can help healthcare providers determine the appropriate treatment and management plan for individuals with galactosemia.

It is important to note that the Galactosemia Panel 2 Test specifically analyzes the genes included in the panel and may not detect all possible mutations associated with galactosemia. Additional testing or consultation with a genetic specialist may be required for a comprehensive evaluation.