Meckel syndrome, also known as Meckel-Gruber syndrome, is a rare genetic disorder characterised by a number of severe congenital abnormalities typically involving the brain, kidneys and other body structures. The main features of Meckel syndrome include malformations of the cerebellum, encephalocele, renal dysplasia and congenital heart defects. Other abnormalities may include neural tube defects, hepatic polycystosis, eye and lung abnormalities.

15 genes

Estimated 1/50,000 in Europe Estimated 1/13,250 - 1/140,000 worldwide

Multi-gene panel aimed at the molecular diagnosis of Meckel's syndrome and related disorders.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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