MECKEL SYNDROME / MECKEL-GRUBER / MECKEL-GRUBER-LIKE: CLINICAL EXOME PANEL (Sec. & CNVs) – 20 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Meckel/Meckel-Gruber/Meckel-Gruber-like Syndrome Panel is designed for the genetic diagnosis of lethal or severe autosomal recessive ciliopathies of embryonic development characterized by the classic triad of occipital encephalocele, cystic renal dysplasia, and postaxial polydactyly, and may also be associated with hepatic and pulmonary malformations. These diseases result from alterations in genes encoding proteins of the primary cilium and ciliary transition complexes, which are essential for signaling during organogenesis. The panel includes genes associated with classic forms of the syndrome, such as TMEM67, MKS1, CEP290, CC2D2A, TCTN1, TCTN2, and TCTN3, as well as genes involved in overlapping phenotypes or milder variants, such as RPGRIP1L, AHI1, DCDC2, TTC21B, and WDPCP. Identifying pathogenic variants allows for confirmation of prenatal or postnatal diagnoses, establishment of inheritance patterns, genetic counseling, and guidance for reproductive planning through preimplantation genetic diagnosis. Key genes analyzed include: TMEM67, MKS1, CEP290, CC2D2A, TCTN1, TCTN2, TCTN3, RPGRIP1L, AHI1, DCDC2, and others. For a complete list of analyzed genes, please contact Genotica.
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