Testing Criteria

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Testing criteria Disorders Genes Date
Aicardi-Goutieres Syndrome 2016
Aicardi-Goutieres Syndromes 7 Gene Panel
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Aicardi-Goutieres Syndrome 2
  • Aicardi-Goutieres Syndrome 3
  • Aicardi-Goutieres Syndrome 4
  • Aicardi-Goutieres Syndrome 5
  • Aicardi-Goutieres Syndrome 6
  • Aicardi-Goutieres Syndrome 7
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • interferon induced with helicase C domain 1
    • 0
  • ribonuclease H2, subunit A
    • aicardi gourieres syndrome 4
    • ribonuclease H2, large subunit
    • ribonuclease HI, large subunit
    • RNAse HI, large subunit
  • ribonuclease H2, subunit B
    • aicardi gourieres syndrome 2
    • deleted in lymphocytic leukemia 8
  • ribonuclease H2, subunit C
    • aicardi gourieres syndrome 3
  • SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
    • Aicardi-Goutieres syndrome 5
  • three prime repair exonuclease 1
    • aicardi gourieres syndrome 1
2016
Alagille Syndrome 2
  • Alagille Syndrome 2
  • notch 2
    • notch homolog 2 (drosophila)
2009
Albinism and Nystagmus 31 Gene Panel
  • Aland Island Eye Disease
    • Forsius-Eriksson Type Ocular Albinism
  • 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
  • Albinism, Oculocutaneous, Type VI
  • Albinism, Oculocutaneous, Type VII
  • Chediak-Higashi Syndrome
  • Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
  • Epileptic Encephalopathy, Early Infantile, 42
  • Episodic Ataxia, Type 2
    • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
    • Apca
    • Ataxia, Episodic, With Nystagmus
    • Ataxia, Familial Paroxysmal
    • Cacna1a-Related Episodic Ataxia Type 2
    • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive
    • Cerebellopathy, Hereditary Paroxysmal
    • Episodic Ataxia, Nystagmus-Associated
  • FG Syndrome 4
    • Mental Retardation, X-Linked, With Or Without Nystagmus, Included
  • Foveal Hypoplasia 1
    • Foveal Hypoplasia 1 With Or Without Anterior Segment Anomalies And/Or Cataract
  • Griscelli Syndrome, Type 1
    • Griscelli Syndrome with Neurologic Impairment
    • Griscelli Syndrome, Cutaneous and Neurologic Type
    • Partial Albinism and Primary Neurologic Disease without Hemophagocytic Syndrome
  • Griscelli Syndrome, Type 2
    • Griscelli Syndrome With Hemophagocytic Syndrome
    • Paid Syndrome
    • Partial Albinism And Immunodeficiency Syndrome
  • Griscelli Syndrome, Type 3
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 10
  • 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
  • Mannosidosis, Beta A, Lysosomal
    • Beta-Mannosidase Deficiency
    • Beta-Mannosidosis
    • Lysosomal Beta-Mannosidase Deficiency
  • Migraine, Familial Hemiplegic, 1
    • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia
    • Migraine, Familial Hemiplegic 1, With Progressive Cerebellar Ataxia, Included
    • Migraine, Sporadic Hemiplegic, Included
    • Sporadic Hemiplegic Migraine
  • Nystagmus 1, Congenital, X-Linked
    • Nystagmus 1, Infantile, X-Linked
    • Nystagmus, Congenital Motor, 1
    • Nystagmus, Infantile Idiopathic, Formerly
  • Nystagmus 6, Congenital, X-Linked
  • Retinitis Pigmentosa 14
  • Spastic Ataxia, Charlevoix-Saguenay Type
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
    • Charlevoix-Saguenay Spastic Ataxia
    • Spastic Ataxia 6, Autosomal Recessive
  • Spinocerebellar Ataxia 6
  • Spinocerebellar Ataxia, Autosomal Recessive 1
    • Ataxia-Ocular Apraxia 2
    • Ataxia-Oculomotor Apraxia 2
  • 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 delta 1 subunit
    • adaptor-related protein complex 3, delta 1 subunit
  • 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
  • calcium voltage-gated channel subunit alpha 1A
    • calcium channel, l type, alpha-1 polypeptide, isoform 4
    • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    • calcium channel, voltage-dependent, P/Q type, alpha-1A subunit
  • calcium voltage-gated channel subunit alpha 1F
    • Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
    • calcium channel, voltage-dependent, L type, alpha 1F subunit
  • calcium/calmodulin dependent serine protein kinase
    • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    • CAMGUK, drosophila, homolog of
    • trinucleotide repeat containing 8
    • vertebrate LIN2 homolog
  • dystrobrevin binding protein 1
    • BLOC1S8
    • DBND
    • Dysbindin
    • HPS7
    • My031
  • FERM domain containing 7
  • 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
  • leucine rich melanocyte differentiation associated
    • "chromosome 10 open reading frame 11"
  • lysosomal trafficking regulator
    • Chediak-Higashi syndrome 1
  • mannosidase, beta
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • melanophilin
  • myosin VA
    • GS1
    • MYO5
    • MYR12
  • OCA2 melanosomal transmembrane protein
    • BEY
    • BEY1
    • BEY2
    • EYCL
  • paired box 6
    • paired box gene 6
    • paired box gene 6 (aniridia, keratitis)
  • RAB27A, member RAS oncogene family
  • sacsin molecular chaperone
    • sacsin
    • spastic ataxia of Charlevoix-Saguenay (sacsin)
  • senataxin
    • amyotrophic lateral sclerosis 4
    • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • solute carrier family 24 member 5
    • JSX
    • OCA6
  • solute carrier family 45 member 2
    • AIM-1
    • OCA4
  • tubby like protein 1
  • tyrosinase
    • OCA1
    • OCA1A
    • OCAIA
  • tyrosinase related protein 1
    • b-PROTEIN
    • CATB
    • GP75
    • OCA3
    • TRP
2017
Aldosterone Synthase Deficiency
  • Corticosterone Methyloxidase Type I Deficiency
    • 18-@hydroxylase Deficiency
    • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase
    • Aldosterone Deficiency I
    • Cmo I Deficiency
    • Hyperreninemic Hypoaldosteronism, Familial, 1
    • Steroid 18-@hydroxylase Deficiency
  • Corticosterone Methyloxidase Type II Deficiency
    • 18-@oxidase Deficiency
    • Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase
    • Aldosterone Deficiency II
    • Cmo II Deficiency
    • Steroid 18-Oxidase Deficiency
  • cytochrome P450, family 11, subfamily B, member 2
    • aldosterone deficiency due to deficiency of 18-hydroxysteroid dehydrogenase, included
    • aldosterone deficiency II, included
    • aldosterone synthase
    • CMO II deficiency, included
    • corticosterone methyl oxidase type II deficiency, included
    • cytochrome P450, family 11, subfamily B, polypeptide 2
    • cytochrome p450, subfamily XIB, polypeptide 2
    • hyperreninemic hypoaldosteronism, familial, 1, included
    • steroid 11-beta-hydroxylase
2010
Alpha-1-Antitrypsin Deficiency
  • Alpha-1-Antitrypsin Deficiency
  • serpin family A, member 1
    • alpha-1-antitrypsin
    • alpha-1-antitrypsin deficiency, autosomal recessive, included
    • anti-elastase
    • antitrypsin
    • protease inhibitor 1
    • serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
    • serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
    • serpinA1
2014
Alport Syndrome, X-Linked
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
2014
Alport Syndromes 3 Gene Panel
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
2015
Alport Syndromes 5 Gene Panel
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • collagen, type IV, alpha 6 chain
    • collagen, type IV, alpha 6
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
2015
Alstrom Syndrome
  • Alstrom Syndrome
    • Alss
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
2015

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