Beckwith Wiedemann Syndrome Test - Price, Purpose, & More

Introduction to MLPA- Beckwith Wiedemann Syndrome Test

Beckwith-Wiedemann Syndrome is a growth disorder characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors visceromegaly, adrenocortical cytomegaly, kidney abnormalities, ear creases / posterior helical ear pits. 

The MLPA-BWS test, a genetic analysis, is crucial in the early diagnosis of Beckwith-Wiedemann Syndrome. BWS, a growth disorder, causes overgrowth in certain body parts like the tongue (macroglossia) or uneven leg lengths. The test helps to confirm the BWS diagnosis in children with symptoms like overgrowth, macroglossia, or abdominal wall defects. This early diagnosis is key to proper management and monitoring for potential complications like childhood tumors, providing reassurance about the effectiveness of the test. 

Test details in brief

Purpose of the MLPA- Beckwith Wiedemann Syndrome Test

The MLPA- Beckwith Wiedemann Syndrome Test is a genetic test used to diagnose BWS in people with signs and symptoms. Here is the purpose of the MLPA-BWS test- 

• The test confirms the symptoms in children with BWS.
• The MLPA test analyzes the methylation status and copy number of specific genes on chromosome 11p15. Abnormalities in these genes are associated with BWS.

What does the MLPA- Beckwith Wiedemann Syndrome Test detect?

The MLPA- Beckwith Wiedemann Syndrome Test focuses on detecting two abnormalities associated with BWS on chromosome 11p15:

• Methylation Abnormalities- The test checks for abnormal methylation patterns in specific genes around two imprinting centers (IC1 and IC2). Normally, genes in these regions have different methylation patterns depending on whether they come from the mother or father. 

BWS can occur due to:

• Loss of methylation (hypomethylation) on the maternally inherited chromosome at IC2 (the most common abnormality detected by MS-MLPA).
• Gain of methylation (hypermethylation) on the paternally inherited chromosome at IC1 (less common).

• Copy Number Variations- The test also detects deletions (loss) or duplications (gain) of genes within the 11p15 region. These variations can disrupt the normal gene balance and contribute to BWS.

The test has a detection rate of approximately 75% for BWS.

Preparation for the MLPA- Beckwith Wiedemann Syndrome Test

There are no specific preparations required before the test-

• Fasting- You don't need to fast before the test. However, if you have any doubts, consult your doctor once.
• Discuss with Doctor- It's important to discuss with your doctor if you take any medications or supplements. If you have any doubts related to the test, your doctor is there to provide support and guidance before taking the test.

The procedure of the MLPA- Beckwith Wiedemann Syndrome Test

The MLPA- Beckwith Wiedemann Syndrome (BWS) test can be done through DNA or body fluids samples. Here is the procedure for the test-

• A healthcare expert will collect a blood sample from your arm. First, he will tie a band or tourniquet on your arm to make the veins clearer. 
• He will then sterile the arm area using an alcohol-based solution. 
• Next, he will draw the blood sample into a vial or tube using a sterile needle. 
• After sample collection, the healthcare expert will put cotton gauze on the arm area to stop bleeding.

What do the MLPA- Beckwith Wiedemann Syndrome Test Reports indicate?

The MLPA test for Beckwith-Wiedemann Syndrome (BWS) is used to detect genetic abnormalities associated with the condition. Here’s what the test reports might indicate:

• Copy Number Variations (CNVs)- MLPA can identify deletions, duplications, or other changes in the number of copies of specific genes associated with BWS. This includes alterations in the imprinted regions of chromosomes 11p15.
• Abnormal Gene Expression—The test might show changes in the expression levels of genes that involve growth regulation, such as IGF2 and CDKN1C.
• Identification of Specific Mutations- In some cases, MLPA can help identify specific mutations associated with the syndrome, including those affecting imprinted regions that regulate growth.
• Confirmation of Diagnosis—Positive test findings can confirm the clinical diagnosis of BWS when symptoms are present, allowing for appropriate management and monitoring.

The results allow us to assess the risk of the syndrome in family members and take the next steps for management and treatment.

Who should take the MLPA- Beckwith Wiedemann Syndrome Test?

The MLPA- Beckwith Wiedemann Syndrome Test (MS-MLPA) is typically recommended to people:

•  Children with BWS features like an enlarged tongue (macroglossia), earlobe creases, umbilical hernia, asymmetric growth, macrocephaly, or neonatal hypoglycemia. 
• People with a family history of BWS
• Prenatal diagnosis

However, many factors, such as the patient's age, severity of symptoms, and medical history, may influence your doctor's recommendation of the MLPA BWS test.

What are the common symptoms related to MLPA- Beckwith Wiedemann Syndrome?

Beckwith-Wiedemann Syndrome (BWS) is a growth disorder that can impact various parts of the body. Here are the common symptoms- 

• Macroglossia (Enlarged Tongue).
• Macrosomia (Large Body Size)
• Abdominal Wall Defects: This can include omphalocele (organs protrude through the navel) or umbilical hernia.
• Hemihyperplasia (Asymmetrical Growth)
• Neonatal Hypoglycemia (Low Blood Sugar)
• Visceromegaly (Enlarged Organs)
• Ear Creases and Pits
• Increased Risk of Tumors

MLPA- Beckwith Wiedemann Syndrome Test price at Redcliffe Labs

The MLPA- Beckwith Wiedemann Syndrome Test price at Redcliffe Labs is INR 15000. Book your test with us to get big discounts on health checkups. We offer more than 3,600+ tests across PAN India. Our labs have advanced technology equipment that allows 100% accurate results on every test. Download our app or call us today to book your appointment.

Beckwith Wiedemann Syndrome Test Cost in Different Cities - Redcliffe Labs

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