Testing Criteria

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Testing criteria Disorders Genes Date
Joubert Syndrome and Meckel Syndrome 25 Gene Panel
  • Hydrolethalus Syndrome 2
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 16
  • Joubert Syndrome 17
  • Joubert Syndrome 18
  • Joubert Syndrome 19
  • Joubert Syndrome 2
    • Cerebellooculorenal Syndrome 2
  • Joubert Syndrome 20
  • Joubert Syndrome 3
  • Joubert Syndrome 4
  • Joubert Syndrome 5
  • Joubert Syndrome 6
  • Joubert Syndrome 7
  • Joubert Syndrome 8
  • Joubert Syndrome 9
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 10
  • Meckel Syndrome, Type 11
  • Meckel Syndrome, Type 2
  • Meckel Syndrome, Type 3
    • Meckel-Gruber Syndrome, Type 3
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Meckel Syndrome, Type 5
  • Meckel Syndrome, Type 6
  • Meckel Syndrome, Type 7
    • Goldston Syndrome
    • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst
  • Meckel Syndrome, Type 8
  • Meckel Syndrome, Type 9
  • Orofaciodigital Syndrome I
    • Ofds I
    • Oral-Facial-Digital Syndrome, Type I
    • Papillon-Leage And Psaume Syndrome
  • Orofaciodigital Syndrome IV
    • Baraitser-Burn Syndrome
    • Mohr-Majewski Syndrome
    • OFD Syndrome With Tibial Defects
    • OFD Syndrome, Baraitser-Burn Type
    • Oral-Facial-Digital Syndrome, Type IV
  • Orofaciodigital Syndrome VI
  • Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
  • Simpson-Golabi-Behmel Syndrome, Type 2
  • Abelson helper integration site 1
    • Abelson helper integration site
    • Jouberin
  • ADP ribosylation factor-like 13B
    • ARL2-like protein 1
  • B9 domain containing 1
    • B9 protein domain 1
  • B9 protein domain 2
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • centrosomal protein 41
    • centrosomal protein 41kDa
    • testis specific, 14
    • testis-specific protein A14 testis-specific protein 14
  • chromosome 5 open reading frame 42
  • coiled-coil and C2 domain containing 2A
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • kinesin family member 7
  • Meckel syndrome, type 1
  • nephrocystin 1
    • nephrocystin-1
    • nephronophthisis 1 (juvenile)
    • nephronophthisis, familial juvenile
  • nephrocystin 3
    • nephronophthisis 3 (adolescent)
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • RPGRIP1-like
    • nephrocystin 8
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • tectonic family member 3
  • tetratricopeptide repeat domain 21B
    • tetratricopeptide repeat domain-containing protein 21B
    • tetratricopeptide repeat-containing hedgehog modulator 1
  • transmembrane protein 138
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 231
  • transmembrane protein 237
    • ALS2 chromosome region gene 4
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • transmembrane protein 67
  • zinc finger protein 423
2015
Joubert Syndrome and Related Disorders 18 Gene Panel
  • COACH Syndrome
    • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
    • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 16
  • Joubert Syndrome 17
  • Joubert Syndrome 2
    • Cerebellooculorenal Syndrome 2
  • Joubert Syndrome 3
  • Joubert Syndrome 4
  • Joubert Syndrome 5
  • Joubert Syndrome 6
  • Joubert Syndrome 7
  • Joubert Syndrome 8
  • Joubert Syndrome 9
  • Senior-Loken Syndrome 1
    • Juvenile Nephronophthisis With Leber Amaurosis
    • Loken-Senior Syndrome
    • Renal Dysplasia And Retinal Aplasia
    • Renal-Retinal Syndrome
    • Senior-Loken Syndrome
  • Senior-Loken Syndrome 6
  • Abelson helper integration site 1
    • Abelson helper integration site
    • Jouberin
  • ADP ribosylation factor-like 13B
    • ARL2-like protein 1
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • centrosomal protein 41
    • centrosomal protein 41kDa
    • testis specific, 14
    • testis-specific protein A14 testis-specific protein 14
  • chromosome 5 open reading frame 42
  • coiled-coil and C2 domain containing 2A
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • kinesin family member 7
  • nephrocystin 1
    • nephrocystin-1
    • nephronophthisis 1 (juvenile)
    • nephronophthisis, familial juvenile
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • RPGRIP1-like
    • nephrocystin 8
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • tetratricopeptide repeat domain 21B
    • tetratricopeptide repeat domain-containing protein 21B
    • tetratricopeptide repeat-containing hedgehog modulator 1
  • transmembrane protein 138
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 237
    • ALS2 chromosome region gene 4
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • transmembrane protein 67
2013
Joubert Syndrome and Related Disorders 24 Gene Panel
  • Cone-Rod Dystrophy 20
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 16
  • Joubert Syndrome 17
  • Joubert Syndrome 18
  • Joubert Syndrome 19
  • Joubert Syndrome 20
  • Joubert Syndrome 21
  • Joubert Syndrome 22
  • Joubert Syndrome 3
  • Joubert Syndrome 7
  • Joubert Syndrome 8
  • Joubert Syndrome 9
  • Pallister-Hall Syndrome
    • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
  • Senior-Loken Syndrome 4
  • Senior-Loken Syndrome 5
  • Senior-Loken Syndrome 7
  • Senior-Loken Syndrome 8
  • Abelson helper integration site 1
    • Abelson helper integration site
    • Jouberin
  • ADP ribosylation factor-like 13B
    • ARL2-like protein 1
  • centrosomal protein 41
    • centrosomal protein 41kDa
    • testis specific, 14
    • testis-specific protein A14 testis-specific protein 14
  • centrosome and spindle pole associated protein 1
  • chromosome 5 open reading frame 42
  • coiled-coil and C2 domain containing 2A
  • GLI family zinc finger 3
    • GLI-kruppel family member GLI3
    • GLI-kruppel family member GLI3
    • greig cephalopolysyndactyly syndrome
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • IQ motif containing B1
  • kinesin family member 7
  • nephrocystin 4
    • nephronophthisis 4
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • phosphodiesterase 6D
  • POC1 centriolar protein B
  • RPGRIP1-like
    • nephrocystin 8
  • serologically defined colon cancer antigen 8
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 3
  • transmembrane protein 138
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 231
  • transmembrane protein 237
    • ALS2 chromosome region gene 4
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • WD repeat domain 19
  • zinc finger protein 423
2015

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