Test Catalogue by Gene | Connective Tissue Gene Tests

Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.

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P

P2RY12
Platelet bleeding disorders NGS panel	NGS Del Dup

P3H1
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type VIII	Del Dup NGS

P4HB
Cole-Carpenter syndrome 1	Del Dup NGS
Cole-Carpenter syndrome NGS panel	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant	Del Dup NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS

PAFAH1B1
Lissencephaly and related disorders NGS panel	NGS Del Dup
Lissencephaly core NGS panel	NGS Del Dup

PAH
Common Carrier Screening Panel	Comp
Extended Carrier Screening panel	Comp
Phenylketonuria Carrier Screening	Comp

PAM16
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

PAPSS2
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

PARN
Dyskeratosis congenita NGS panel	Del Dup NGS

PAX2
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

PAX3
Waardenburg syndrome NGS panel	Del Dup NGS

PAX9
Oligodontia - Selective tooth agenesis NGS panel	NGS Del Dup

PCNT
Microcephalic primordial dwarfism NGS panel	NGS Del Dup

PCYT1A
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy	Del Dup NGS Sanger

PDCD10
Cerebral cavernous malformations 3	Del Dup NGS
Cerebral cavernous malformations NGS panel	Del Dup NGS
Vascular malformations NGS panel	NGS Del Dup

PDE6D
Joubert syndrome and related disorders NGS panel	NGS Del Dup

PDGFRB
Overgrowth syndrome NGS panel	Del Dup NGS
Progeroid syndromes and related disorders NGS panel	Del Dup NGS

PDK3
Charcot-Marie-Tooth disease NGS panel	NGS Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel	NGS Del Dup

PDSS2
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

PEX5
Chondrodysplasia punctata and related disorders NGS panel	NGS Del Dup

PEX7
Chondrodysplasia punctata and related disorders NGS panel	NGS Del Dup
Rhizomelic chondrodysplasia punctata type 1	NGS Sanger Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	NGS Del Dup
Skeletal dysplasia extended NGS panel	Del Dup NGS

PFN1
Amyotrophic lateral sclerosis and related disorders NGS panel	NGS Del Dup

PHEX
Abnormal mineralization disorders NGS panel	NGS Del Dup
Rickets, hypophosphatemic, X-linked dominant	NGS Del Dup

PHGDH
Neu-Laxova syndrome 1	NGS Del Dup
Neu-Laxova syndrome NGS panel	Del Dup NGS
Phosphoglycerate dehydrogenase deficiency	Del Dup NGS

PHKA2
Extended Carrier Screening panel	Comp

PHKG2
Extended Carrier Screening panel	Comp

PIBF1
Joubert syndrome and related disorders NGS panel	NGS Del Dup

PIEZO2
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Distal arthrogryposes NGS panel	NGS Del Dup

PIGA
Overgrowth syndrome NGS panel	NGS Del Dup
Simpson-Golabi-Behmel syndrome, PIGA related	Del Dup NGS Sanger

PIK3R2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel	Del Dup NGS

PIP5K1C
Congenital contracture syndrome extended NGS panel	NGS Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel	NGS Del Dup

PKD1
Polycystic kidney disease and related disorders NGS panel	Del Dup NGS
Polycystic liver disease NGS panel	Del Dup NGS

PKD2
Polycystic kidney disease and related disorders NGS panel	Del Dup NGS
Polycystic liver disease NGS panel	Del Dup NGS

PKHD1
Extended Carrier Screening panel	Comp
Nephronophthisis and related disorders NGS panel	NGS Del Dup
Polycystic kidney disease and related disorders NGS panel	NGS Del Dup
Polycystic liver disease NGS panel	NGS Del Dup

PKP1
Epidermolysis bullosa NGS panel	NGS Del Dup

PKP2
Brugada syndrome and related disorders NGS panel	NGS Del Dup
Cardiac channelopathy NGS panel	NGS Del Dup

PLAU
Platelet bleeding disorders NGS panel	NGS Del Dup

PLCB4
Auriculocondylar syndrome NGS panel	NGS Del Dup

PLCE1
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

PLEC
Epidermolysis bullosa NGS panel	Del Dup NGS
Limb girdle muscular dystrophy NGS panel	NGS Del Dup

PLEKHG5
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS
Distal hereditary motor neuropathy and related disorders NGS panel	Del Dup NGS

PLEKHM1
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis NGS panel	Del Dup NGS
Osteopetrosis, autosomal recessive 6	Del Dup NGS

PLOD1
Connective tissue disorder NGS panel	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	NGS Del Dup
Ehlers-Danlos syndrome, kyphoscoliotic type, 1	Del Dup NGS

PLOD2
Bruck syndrome 2	NGS Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS

PLS3
Osteogenesis imperfecta NGS panel - Dominant	Del Dup NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive	Del Dup NGS
Osteogenesis imperfecta NGS panel - Recessive	NGS Del Dup
Osteogenesis imperfecta, PLS3 related	Del Dup NGS

PMP22
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

PNPLA1
Ichthyosis NGS panel	NGS Del Dup

POLD1
Progeroid syndromes and related disorders NGS panel	Del Dup NGS

POLH
Xeroderma pigmentosum NGS panel	Del Dup NGS

POLR1A
Treacher Collins syndrome and related disorders NGS panel	Del Dup NGS

POLR1C
Treacher Collins syndrome 3	Del Dup NGS Sanger
Treacher Collins syndrome and related disorders NGS panel	Del Dup NGS
Treacher Collins syndrome core NGS panel	NGS Del Dup

POLR1D
Treacher Collins syndrome 2	Del Dup NGS Sanger
Treacher Collins syndrome and related disorders NGS panel	NGS Del Dup
Treacher Collins syndrome core NGS panel	Del Dup NGS

POMGNT1
Limb girdle muscular dystrophy NGS panel	Del Dup NGS
Lissencephaly and related disorders NGS panel	Del Dup NGS

POMGNT2
Lissencephaly and related disorders NGS panel	NGS Del Dup

POMK
Limb girdle muscular dystrophy NGS panel	Del Dup NGS
Lissencephaly and related disorders NGS panel	Del Dup NGS

POMP
Ichthyosis NGS panel	NGS Del Dup

POMT1
Limb girdle muscular dystrophy NGS panel	NGS Del Dup
Lissencephaly and related disorders NGS panel	NGS Del Dup

POMT2
Limb girdle muscular dystrophy NGS panel	NGS Del Dup
Lissencephaly and related disorders NGS panel	NGS Del Dup

POR
Craniosynostosis NGS panel	NGS Del Dup

PORCN
Focal dermal hypoplasia	Del Dup NGS

POU1F1
Short stature with endocrinopathy NGS panel	NGS Del Dup

PPIB
Osteogenesis imperfecta NGS panel - Dominant & Recessive	NGS Del Dup
Osteogenesis imperfecta NGS panel - Recessive	Del Dup NGS
Osteogenesis imperfecta, type IX	NGS Sanger Del Dup

PPP1CB
Noonan spectrum disorder NGS panel	Del Dup NGS

PRDM5
Brittle cornea syndrome 2	Del Dup NGS
Brittle cornea syndrome NGS panel	NGS Del Dup
Connective tissue disorder NGS panel	NGS Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	Del Dup NGS
Keratoconus and related disorders NGS panel	NGS Del Dup

PRKACG
Platelet bleeding disorders NGS panel	NGS Del Dup
Thrombocytopenia NGS Panel	NGS Del Dup

PRKCSH
Polycystic liver disease NGS panel	NGS Del Dup

PRKG1
Aortic aneurysm, familial thoracic 8	NGS Del Dup
Connective tissue disorder NGS panel	Del Dup NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel	Del Dup NGS

PROP1
Short stature with endocrinopathy NGS panel	NGS Del Dup

PRPH2
Leber congenital amaurosis and related disorders NGS panel	Del Dup NGS

PRPS1
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

PRX
Charcot-Marie-Tooth disease NGS panel	Del Dup NGS

PSAT1
Neu-Laxova syndrome 2	Del Dup NGS
Neu-Laxova syndrome NGS panel	Del Dup NGS
Phosphoserine aminotransferase deficiency	NGS Del Dup

PTCH1
Basal cell nevus syndrome - PTCH1	NGS Del Dup
Basal cell nevus syndrome NGS panel	NGS Del Dup

PTCH2
Basal cell nevus syndrome - PTCH2	NGS Del Dup
Basal cell nevus syndrome NGS panel	Del Dup NGS

PTDSS1
Dense bone dysplasia NGS panel	Del Dup NGS
Osteopetrosis and Dense bone dysplasia NGS panel	Del Dup NGS

PTEN
Vascular malformations NGS panel	NGS Del Dup

PTH1R
Chondrodysplasia, Blomstrand type	NGS Del Dup
Eiken syndrome	NGS Del Dup
Failure of tooth eruption, primary	NGS Del Dup
Metaphyseal chondrodysplasia, Jansen type	Del Dup NGS
Oligodontia - Selective tooth agenesis NGS panel	Del Dup NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel	Del Dup NGS
Skeletal dysplasia core & extended NGS panel	Del Dup NGS
Skeletal dysplasia extended NGS panel	Del Dup NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel	Del Dup NGS

PTPN11
Noonan spectrum disorder NGS panel	Del Dup NGS
Noonan syndrome core NGS panel	NGS Del Dup

PTPRO
Nephrotic syndrome and related disorders NGS panel	Del Dup NGS

PYCR1
Cutis laxa NGS panel	Del Dup NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB	Del Dup NGS
Progeroid syndromes and related disorders NGS panel	NGS Del Dup

PYGL
Extended Carrier Screening panel	Comp

PYROXD1
Myofibrillar myopathy and related disorders NGS panel	Del Dup NGS

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