Meckel-Gruber Syndrome Test Cost & Procedure

A 13-gene panel that evaluates non-coding mutations is used.

is best for patients who have abnormalities of the central nervous system, cystic kidney disease, or clinical suspicion of Meckel syndrome.

Meckel Gruber Syndrome: What is it?

Meckel-Gruber syndrome is a fatal autosomal recessive congenital abnormality syndrome brought on by pathogenic variations in proteins that make up the primary cilium's structure or function. Primary cilia are crucial for the development of vertebrates, and a sizable subset of human malformation syndromes known as ciliopathies are caused by pathogenic mutations that disrupt this organelle. The most frequent syndromic form of neural tube abnormality is Meckel Gruber syndrome, which is distinguished by occipital encephalocele, cystic kidneys, and fibrotic alterations to the liver in its typical trio of clinical symptoms.

Why is this test recommended?

• Clinical phenotypes such as postaxial polydactyly, skeletal dysplasia, microphthalmia, genital anomalies, cleft lip and palate, and heart problems are now included in the clinical phenotype.
• All of the indicated genes' sequences and deletion/duplication analyses are included in the panel.
• Our clinical-grade NGS test, of the highest calibre, is sectioned into our panels. Details on our capacity to identify various alterations can be found in the sequencing and detection performance.

Procedure:

• Many other sample types, including EDTA-blood, extracted DNA (excluding formalin-fixed paraffin-embedded tissue), saliva, and dry blood spots, have been confirmed by assays. (filter cards).
• The probability of a high-quality DNA yield was maximised by using these sample types.
• The diagnostic yield varies based on the assay utilized, the healthcare provider referring the patient, the hospital, and the nation.
• Additionally, since big deletions and duplications cannot be found using sequence analysis alone, analysis increases the possibility that you may discover a genetic diagnosis for your patient.

Sequencing and deletion/duplication (copy number variant, or CNV) analysis are both included in Blueprint Genetics' Plus Analysis. Meckel-Gruber syndrome is fatal in utero or shortly after delivery, frequently as a result of pulmonary hypoplasia, though a rare survival recorded at the age of 28 months has been described. Although MKS has a wide-ranging, multi-organ phenotype with significant diversity, it is typically identified by the presence of cystic kidney dysplasia, in addition to at least one other distinctive disease characteristic. These include polydactyly occipital encephalocele, and hepatic developmental anomalies like the ductal plate malformation It has been suggested that the existence of aberrant intrahepatic bile ducts and cystic kidneys is a characteristic of MKS that is pathognomonic for the disease. According to Salonen, the minimal diagnostic standards for MKS