Testing Criteria

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Testing criteria Disorders Genes Date
Ocular Albinism, Photophobia and Nystagmus 15 Gene Exome Panel
  • Albinism, Ocular, Type I
  • Albinism, Ocular, With Sensorineural Deafness
    • Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive
  • Albinism, Oculocutaneous, Type Ia
    • Albinism I
    • Oculocutaneous Albinism, Type I
    • Oculocutaneous Albinism, Tyrosinase-Negative
  • Albinism, Oculocutaneous, Type Ib
  • Albinism, Oculocutaneous, Type II
  • Albinism, Oculocutaneous, Type III
    • Albinism III
    • Oculocutaneous Albinism, Type III
    • Rufous Oculocutaneous Albinism
    • Xanthism
  • Albinism, Oculocutaneous, Type IV
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 2
  • Hermansky-Pudlak Syndrome 3
  • Hermansky-Pudlak Syndrome 4
  • Hermansky-Pudlak Syndrome 5
  • Hermansky-Pudlak Syndrome 6
  • Hermansky-Pudlak Syndrome 7
  • Hermansky-Pudlak Syndrome 8
  • Hermansky-Pudlak Syndrome 9
  • Melanoma, Cutaneous Malignant, Susceptibility To, 8
    • Melanoma And Renal Cell Carcinoma, Susceptibility To
  • Nystagmus 6, Congenital, X-Linked
  • Skin/Hair/Eye Pigmentation, Variation In, 1
  • Skin/Hair/Eye Pigmentation, Variation In, 11
    • .
  • Skin/Hair/Eye Pigmentation, Variation In, 3
  • Skin/Hair/Eye Pigmentation, Variation In, 5
  • Tietz Albinism-Deafness Syndrome
    • Albinism-Deafness Of Tietz
    • Hypopigmentation/Deafness Of Tietz
    • Tietz Syndrome
  • Waardenburg Syndrome, Type 2A
    • Waardenburg Syndrome Without Dystopia Canthorum
    • Waardenburg Syndrome, Type IIA
  • adaptor related protein complex 3, beta 1 subunit
    • ADTB3A
    • HPS2
  • biogenesis of lysosomal organelles complex 1 subunit 3
    • BLOS3
    • HPS8
  • biogenesis of lysosomal organelles complex 1 subunit 6
    • HPS9
  • dystrobrevin binding protein 1
    • BLOC1S8
    • DBND
    • Dysbindin
    • HPS7
    • My031
  • G protein-coupled receptor 143
    • 0
  • HPS1, biogenesis of lysosomal organelles complex 3, subunit 1
    • Hermansky-Pudlak syndrome
    • Hermansky-Pudlak syndrome 1
    • HPS1 gene
    • pale ear, mouse, homolog of
  • HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
    • BLOC2S1
    • SUTAL
  • HPS4, biogenesis of lysosomal organelles complex 3, subunit 2
    • Hermansky-Pudlak syndrome 4
    • HPS4 gene
    • light ear, mouse, homolog of
  • HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
    • AIBP63
    • BLOC2S2
    • RU2
  • HPS6, biogenesis of lysosomal organelles complex 2, subunit 3
    • Hermansky-Pudlak syndrome 6
    • HPS6 gene
    • ruby-eye, mouse, homolog of
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • OCA2 melanosomal transmembrane protein
    • BEY
    • BEY1
    • BEY2
    • EYCL
  • solute carrier family 45 member 2
    • AIM-1
    • OCA4
  • tyrosinase
    • OCA1
    • OCA1A
    • OCAIA
  • tyrosinase related protein 1
    • b-PROTEIN
    • CATB
    • GP75
    • OCA3
    • TRP
2017
Odontoonychodermal Dysplasia And Related Phenotypes 2011
Ohdo Syndrome 2013
Ohdo Syndrome
  • Ohdo Syndrome
    • Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth
    • Ohdo Blepharophimosis Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
2013
Ohdo Syndrome, SBBYS Variant
  • Ohdo Syndrome, SBBYS Variant
    • Say-Barber-Biesecker-Young-Simpson Syndrome
    • Young-Simpson Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
2013
Opitz-Kaveggia Syndrome
  • Opitz-Kaveggia Syndrome
    • Fg Syndrome
    • Fg Syndrome 1
    • Keller Syndrome
    • Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
  • mediator complex subunit 12
    • human opposite paired gene
    • mediator of rna polymerase II transcription, subunit 12, s. cerevisiae, homolog of
    • thyroid hormone receptor-associated protein, 230-kd subunit
    • trinucleotide repeat-containing gene 11
2010
Optic Atrophy 1
  • Optic Atrophy 1
    • Kjer Type Optic Atrophy
    • Optic Atrophy, Juvenile
    • Optic Atrophy, Kjer Type
  • OPA1, mitochondrial dynamin like GTPase
    • optic atrophy 1 (autosomal dominant)
    • optic atrophy 1 gene
2008
Optic Atrophy Disorders 3 Gene Panel
  • Optic Atrophy 1
    • Kjer Type Optic Atrophy
    • Optic Atrophy, Juvenile
    • Optic Atrophy, Kjer Type
  • Optic Atrophy 3, Autosomal Dominant
    • OPA3, Autosomal Dominant
    • Optic Atrophy And Cataract, Autosomal Dominant
  • Optic Atrophy 7 With Or Without Auditory Neuropathy
  • OPA1, mitochondrial dynamin like GTPase
    • optic atrophy 1 (autosomal dominant)
    • optic atrophy 1 gene
  • OPA3, outer mitochondrial membrane lipid metabolism regulator
    • optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • transmembrane protein 126A
2016
Optic Atrophy, Childhood Onset, 13 Gene Exome Panel
  • Acrocallosal Syndrome
    • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
    • Schinzel Acrocallosal Syndrome
  • Behr Syndrome
  • Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
  • Cataract 41
  • Charcot-Marie-Tooth Disease, Axonal, Type 2A2
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2a2
    • Charcot-Marie-Tooth Neuropathy, Type 2a2
    • Hereditary Motor And Sensory Neuropathy IIa2
  • Combined Oxidative Phosphorylation Deficiency 7
  • Congenital Disorder of Glycosylation, Type Id
    • 0
  • Glaucoma, Normal Tension, Susceptibility To
  • Joubert Syndrome 12
  • Mohr-Tranebjaerg Syndrome
    • Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
    • Deafness-Dystonia-Optic Atrophy Syndrome
    • Dystonia-Deafness Syndrome
    • Jensen Syndrome
    • Opticoacoustic Nerve Atrophy With Dementia
  • Optic Atrophy 1
    • Kjer Type Optic Atrophy
    • Optic Atrophy, Juvenile
    • Optic Atrophy, Kjer Type
  • Optic Atrophy 3, Autosomal Dominant
    • OPA3, Autosomal Dominant
    • Optic Atrophy And Cataract, Autosomal Dominant
  • Optic Atrophy 7 With Or Without Auditory Neuropathy
  • Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
    • Dominant Optic Atrophy Plus Syndrome
  • Spastic Paraplegia 7, Autosomal Recessive
  • Warburg Micro Syndrome 1
    • Micro Syndrome
  • Warburg Micro Syndrome 4
    • .
  • Wolfram Syndrome 1
    • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness
    • Wolfram Syndrome
  • Wolfram-Like Syndrome, Autosomal Dominant
    • .
  • ALG3, alpha-1,3- mannosyltransferase
    • CDGS4
    • D16Ertd36e
    • Not56
    • NOT56L
  • chromosome 12 open reading frame 65
  • kinesin family member 7
  • mitofusin 2
  • nuclear receptor subfamily 2, group F, member 1
    • COUP-TFI
    • EAR-3
    • SVP44
    • TCFCOUP1
  • OPA1, mitochondrial dynamin like GTPase
    • optic atrophy 1 (autosomal dominant)
    • optic atrophy 1 gene
  • OPA3, outer mitochondrial membrane lipid metabolism regulator
    • optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • RAB3 GTPase activating protein catalytic subunit 1
    • RAB3 GTPase activating protein subunit 1 (catalytic)
    • RAB3GAP, 130-kD subunit
    • RAB3GAP, catalytic subunit
    • WARBM1 gene
  • SPG7, paraplegin matrix AAA peptidase subunit
    • cell adhesion regulator
    • cell matrix adhesion regulator
    • paraplegin
    • spastic paraplegia 7 (pure and complicated autosomal recessive)
  • TBC1 domain family member 20
    • dJ852M4.2
  • translocase of inner mitochondrial membrane 8A
    • DDP
    • MTS
    • translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • transmembrane protein 126A
  • wolframin ER transmembrane glycoprotein
    • wfs1 gene
    • Wolfram syndrome 1 (wolframin)
    • wolframin
2017
Orofaciodigital Syndromes 6 Gene Panel
  • 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 V
  • Orofaciodigital Syndrome XIV
  • C2 calcium-dependent domain containing 3
  • DEAD-box helicase 59
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • sodium channel and clathrin linker 1
  • TBC1 domain family member 32
  • tectonic family member 3
2015

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