Pneumology

Genetic Test
Samples Required

Jeune Syndrome, Asphyxiating thoracic Dystrophy of the newborn, JATD, Jeune asphyxiating thoracic Dystrophy
Genetic Test
Samples Required

Mucopolysaccharidosis type 1, Hurler Syndrome, Hurler-Scheie
Genetic Test
Samples Required
AG

Mycobacterium tubercolosis
Genetic Test
Samples Required
AG

Mycobacterium tubercolosis quantitative analysis
Genetic Test
Samples Required

PolyT/PolyTG CFTR Gene Polymorphism
Genetic Test
Samples Required

Primary Ciliary Dyskinesia, PCD (panel)
Genetic Test
Samples Required
BP

TSC2 whole gene NGS
Genetic Test
Samples Required

Tuberous sclerosis, Bourneville Syndrome (TSC1, TSC2)
Genetic Test
Samples Required

VEGF (C-2578A)
Genetic Test
Samples Required

Woman panel (most mutations): FC (Cystic Fibrosis 139 mutations), Hereditary Deafness, SMA Carrier test, FRAXA