Testing Criteria

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Testing criteria Disorders Genes Date
Sandhoff Disease
  • Sandhoff Disease
    • Gm2-Gangliosidosis, Type II
    • Hexosaminidases A And B Deficiency
  • hexosaminidase subunit beta
    • hexosaminidase b (beta polypeptide)
2011
Schwannomatosis & Rhabdoid Tumour 2 gene panel
  • Schwannomatosis 1
    • Neurilemmomatosis, Congenital Cutaneous
    • Schwannomatosis
  • Schwannomatosis 2
  • leucine zipper transcription factor like 1
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1
    • integrase interactor 1
    • malignant rhabdoid tumor suppressor
    • SNF5, yeast, homolog of
    • sucrose nonfermenting, yeast, homolog-like 1
2015
Schwannomatosis 1
  • Schwannomatosis 1
    • Neurilemmomatosis, Congenital Cutaneous
    • Schwannomatosis
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1
    • integrase interactor 1
    • malignant rhabdoid tumor suppressor
    • SNF5, yeast, homolog of
    • sucrose nonfermenting, yeast, homolog-like 1
2009
SCN9A Related Pain Disorders
  • Erythermalgia, Primary
    • Erythromelalgia, Familial
    • Erythromelalgia, Primary
  • sodium voltage-gated channel alpha subunit 9
    • neuroendocrine sodium channel
    • peripheral sodium channel 1
    • sodium channel, voltage-gated, type IX, alpha subunit
2010
SCN9A Related Pain Disorders
  • Paroxysmal Extreme Pain Disorder
    • Pain, Submandibular, Ocular, And Rectal, With Flushing
    • Pexpd
    • Rectal Pain, Familial
  • sodium voltage-gated channel alpha subunit 9
    • neuroendocrine sodium channel
    • peripheral sodium channel 1
    • sodium channel, voltage-gated, type IX, alpha subunit
2010
SCN9A Related Pain Disorders
  • Indifference to Pain, Congenital, Autosomal Recessive
    • Asymbolia For Pain
    • Congenital Analgesia, Autosomal Recessive
    • Insensitivity To Pain, Channelopathy-Associated
    • Neuropathy, Hereditary Sensory and Autonomic, Type IID, Included
  • sodium voltage-gated channel alpha subunit 9
    • neuroendocrine sodium channel
    • peripheral sodium channel 1
    • sodium channel, voltage-gated, type IX, alpha subunit
2010
Segmental Overgrowth Disorders 60 Gene Panel
  • Achondroplasia
  • Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
  • Agammaglobulinemia 7, Autosomal Recessive
    • Agammaglobulinemia, Autosomal Recessive, Due To PIK3R1 Defect
  • Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
    • Antley-Bixler Syndrome
    • Multisynostotic Osteodysgenesis With Long Bone Fractures
    • Osteodysgenesis, Multisynostotic, With Fractures
    • Trapezoidocephaly-Synostosis Syndrome
  • Apert Syndrome
    • Acrocephalosyndactyly, Type I
    • Acrocephalosyndactyly, Type II, Included
    • Acs I
    • Acs II, Included
    • Apert-Crouzon Disease
    • Vogt Cephalodactyly, Included
  • Autoimmune Disease, Multisystem, Infantile-Onset, 1
  • Beare-Stevenson Cutis Gyrata Syndrome
    • Cutis Gyrata Syndrome Of Beare And Stevenson
  • Bent Bone Dysplasia Syndrome
  • Camptodactyly, Tall Stature, And Hearing Loss Syndrome
  • Cardiofaciocutaneous Syndrome 3
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Crouzon Syndrome
    • Craniofacial Dysostosis, Type I
    • Crouzon Craniofacial Dysostosis
    • Pseudo-Crouzon Syndrome, Included
  • Crouzon Syndrome With Acanthosis Nigricans
  • D-2-Hydroxyglutaric Aciduria 1
  • Encephalocraniocutaneous Lipomatosis
  • Hartsfield Syndrome
  • Hemangioma, Capillary Infantile
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
    • Hies, Autosomal Dominant
    • Hyper-IgE Syndrome, Autosomal Dominant
    • Job Syndrome
  • Hypocalcemia, Autosomal Dominant 2
  • Hypocalciuric Hypercalcemia, Familial, Type II
    • Familial Benign Hypercalcemia II,
  • Hypochondroplasia
  • Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
  • Hypoinsulinemic Hypoglycemia With Hemihypertrophy
    • .
  • Immunodeficiency 36
  • Immunodeficiency Due To Defect In MAPBP-Interacting Protein
  • Insulin-Like Growth Factor I, Resistance To
    • Igf-I Resistance
    • Insulin-Like Growth Factor I, Resistance To, Due To Increased Binding Protein, Included
    • Somatomedin, End-Organ Insensitivity To
    • Somatomedin-C, Resistance To
  • Jackson-Weiss Syndrome
    • Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
  • Juvenile Polyposis Syndrome
    • Juvenile Intestinal Polyposis
    • Juvenile Polyposis Coli, Included
    • Juvenile Polyposis Of Stomach, Included
    • Polyposis, Familial, Of Entire Gastrointestinal Tract
    • Polyposis, Juvenile Intestinal
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Klippel-Trenaunay-Weber Syndrome
  • Lacrimoauriculodentodigital Syndrome
    • Levy-Hollister Syndrome
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Leopard Syndrome 3
  • Lethal Congenital Contracture Syndrome 2
    • Multiple Contracture Syndrome, Israeli Bedouin Type A
  • Macrocephaly/Autism Syndrome
    • 0
  • McCune-Albright Syndrome
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
    • MEG-PMG-MEGACC Syndrome
    • Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development
    • Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
  • Megalodactyly
  • Melanocytic Nevus Syndrome, Congenital
  • Metachondromatosis
  • Muenke Syndrome
    • Muenke Nonsyndromic Coronal Craniosynostosis
  • Myhre Syndrome
    • Growth-Mental Deficiency Syndrome Of Myhre
    • Laryngotracheal Stenosis, Arthropathy, Prognathism, And Short Stature
  • Nevus, Epidermal
    • Nevus, Keratinocytic, Nonepidermolytic
    • Pigmented Moles
  • Noonan Syndrome 1
    • Female Pseudo-Turner Syndrome
    • Male Turner Syndrome
    • Noonan Syndrome
    • Pterygium Colli Syndrome, Included
    • Turner Phenotype With Normal Karyotype
  • Noonan Syndrome 4
  • Noonan Syndrome 7
  • Osteoglophonic Dysplasia
  • Pfeiffer Syndrome
    • Acrocephalosyndactyly, Type V
    • Acs V
    • Craniofacial-Skeletal-Dermatologic Dysplasia, Included
    • Noack Syndrome, Included
  • Proteus Syndrome
    • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly
  • Saethre-Chotzen Syndrome
    • Acrocephalosyndactyly, Type III
    • Acrocephaly, Skull Asymmetry, And Mild Syndactyly
    • Acs III
    • Blepharophimosis, Epicanthus Inversus, And Ptosis 3, Formerly, Included
    • Chotzen Syndrome
    • Saethre-Chotzen Syndrome With Eyelid Anomalies, Included
  • Scaphocephaly, Maxillary Retrusion, And Mental Retardation
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
    • SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative
  • SHORT Syndrome
    • Lipodystrophy, Partial, With Rieger Anomaly And Short Stature
    • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay
  • Smith-Kingsmore syndrome
    • Macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism
  • Sturge-Weber Syndrome
  • Thanatophoric Dysplasia, Type I
    • Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans
    • Thanatophoric Dwarfism
    • Thanatophoric Dysplasia, Type I, Included
  • Thanatophoric Dysplasia, Type II
    • Cloverleaf Skull With Thanatophoric Dwarfism
    • Thanatophoric Dysplasia With Kleeblattschaedel
    • Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull
  • Trigonocephaly 1
  • Weaver Syndrome
    • Weaver-Like Syndrome, Included
    • Weaver-Smith Syndrome
  • AKT serine/threonine kinase 1
    • v-akt murine thymoma viral oncogene homolog 1
  • AKT serine/threonine kinase 2
    • v-akt murine thymoma viral oncogene homolog 2
  • AKT serine/threonine kinase 3
    • v-akt murine thymoma viral oncogene homolog 3
  • ALK receptor tyrosine kinase
    • anaplastic lymphoma kinase (Ki-1)
    • anaplastic lymphoma receptor tyrosine kinase
  • B-Raf proto-oncogene, serine/threonine kinase
    • oncogene BRAF
    • v-raf murine sarcoma viral oncogene homolog B
    • v-raf murine sarcoma viral oncogene homolog B1
  • cyclin D2
  • cyclin-dependent kinase 2
    • 0
  • DEP domain containing MTOR interacting protein
    • DEP.6
    • FLJ12428
  • enhancer of zeste 2 polycomb repressive complex 2 subunit
    • enhancer of zeste (Drosophila) homolog 2
    • enhancer of zeste homolog 2 (Drosophila)
  • epidermal growth factor receptor
    • ERBB1
  • erb-b2 receptor tyrosine kinase 2
    • CD340
    • HER-2
    • HER2
    • NEU
  • erb-b2 receptor tyrosine kinase 3
    • HER3
  • fibroblast growth factor receptor 1
    • fms-like gene
    • fms-like tyrosine kinase 2
    • fms-related tyrosine kinase 2
  • fibroblast growth factor receptor 2
    • bek, mouse, homolog of, included
    • fgf receptor
    • fibroblast growth factor receptor 2
    • fibroblast growth factor receptor bek, included
    • keratinocyte growth factor receptor, included
    • protein tyrosine kinase, receptor-like, 14
  • fibroblast growth factor receptor 3
    • achondroplasia, thanatophoric dwarfism
  • fms related tyrosine kinase 3
    • CD135
    • FLK2
    • STK1
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • G protein subunit alpha q
    • G-ALPHA-q
    • GAQ
  • GNAS complex locus
    • 1
    • adenylate cyclase stimulatory protein, alpha subunit
    • GS, alpha subunit
    • guanine nucleotide-binding protein, alpha-stimulating activity polypeptide
    • neuroendocrine secretory protein 55, included
    • secretogranin VI
    • stimulatory g protein
    • XI-alpha-s, included
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • insulin like growth factor 1 receptor
    • CD221
    • IGFIR
    • IGFR
    • JTK13
    • MGC18216
  • insulin like growth factor 2 receptor
    • .
  • isocitrate dehydrogenase (NADP(+)) 1, cytosolic
    • 0
  • isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
    • 0
  • janus kinase 2
    • JTK10
  • janus kinase 3
    • janus kinase 3
    • janus kinase, leukocyte
  • kinase insert domain receptor
    • CD309
    • FLK1
    • VEGFR
    • VEGFR2
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KRAS proto-oncogene, GTPase
    • kirsten murine sarcoma VIrus 2
    • kirsten ras1, included
    • oncogene kras1, included
    • oncogene kras2
    • v-Ki-ras1 pseudogene, included
    • v-Ki-ras2 kirsten rat sarcoma viral oncogene homolog
  • late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
    • FLJ20625
    • p18
    • p27RF-Rho
    • Pdro
    • Ragulator1
  • late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
    • ENDAP
    • MAPBPIP
    • MAPKSP1AP
    • p14
    • Ragulator2
  • mechanistic target of rapamycin kinase
    • mechanistic target of rapamycin
    • mechanistic target of rapamycin (serine/threonine kinase)
  • MET proto-oncogene, receptor tyrosine kinase
    • hepatocyte growth factor receptor
    • met protooncogene
    • oncogene met
    • renal cell carcinoma, papillary, 2 gene
  • mitogen-activated protein kinase associated protein 1
    • MGC2745
    • MIP1
    • SIN1
  • mitogen-activated protein kinase kinase 1
    • MAPK/ERK kinase 1
    • protein kinase, mitogen-activated, kinase 1
  • MTOR associated protein, LST8 homolog
    • GbetaL
    • GBL
    • Lst8
    • Pop3
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • PH domain and leucine rich repeat protein phosphatase 1
    • KIAA0606
    • PPM3A
    • SCOP
  • PH domain and leucine rich repeat protein phosphatase 2
    • .
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
    • 0
  • phosphoinositide-3-kinase, regulatory subunit 1
    • phosphatidylinositol 3-kinase, regulatory subunit, 85-KD, alpha
    • phosphatidylinositol 3-kinase-associated p85-alpha
    • phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
  • phosphoinositide-3-kinase, regulatory subunit 2
  • platelet-derived growth factor receptor alpha
    • platelet-derived growth factor receptor, alpha polypeptide
  • protein tyrosine phosphatase, non-receptor type 11
    • noonan syndrome 1
    • protein-tyrosine phosphatase 2c
    • protein-tyrosine phosphatase, nonreceptor-type, 11
    • tyrosine phosphatase shp2
  • pyruvate dehydrogenase kinase 1
    • 0
  • Ras homolog, mTORC1 binding
    • 0
  • Ras related GTP binding A
    • FIP-1
    • RAGA
  • Ras related GTP binding B
    • 0
  • Ras related GTP binding C
    • FLJ13311
    • GTR2
  • Ras related GTP binding D
    • bA11D8.2.1
    • DKFZP761H171
  • regulatory associated protein of MTOR complex 1
    • KIAA1303
    • KOG1
    • Mip1
    • raptor
  • ribosomal protein S6 kinase B1
    • p70(S6K)-alpha
    • PS6K
    • S6K1
  • ribosomal protein S6 kinase B2
    • KLS
    • P70-BETA
    • p70S6Kb
    • STK14B
  • RPTOR independent companion of MTOR complex 2
    • AVO3
    • KIAA1999
    • MGC39830
    • PIA
  • signal transducer and activator of transcription 3
    • acute-phase response factor
    • signal transducer and activator of transcription 3 (acute-phase response factor)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • SOS Ras/Rac guanine nucleotide exchange factor 1
    • son of sevenless homolog 1 (drosophila)
  • SRC proto-oncogene, non-receptor tyrosine kinase
    • ASV
    • c-src
2017
Segmental Overgrowth Syndromes 7 gene panel
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Cowden Syndrome 5
  • Cowden Syndrome 6
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
    • MEG-PMG-MEGACC Syndrome
    • Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development
    • Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
  • Proteus Syndrome
    • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly
  • AKT serine/threonine kinase 1
    • v-akt murine thymoma viral oncogene homolog 1
  • AKT serine/threonine kinase 3
    • v-akt murine thymoma viral oncogene homolog 3
  • cyclin D2
  • mechanistic target of rapamycin kinase
    • mechanistic target of rapamycin
    • mechanistic target of rapamycin (serine/threonine kinase)
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • phosphoinositide-3-kinase, regulatory subunit 2
2015
Seizures, Benign Familial Neonatal, 1
  • Seizures, Benign Familial Neonatal, 1
    • Epilepsy, Benign Neonatal, 1, and/or Myokymia, included
    • Seizures, Benign Familial Neonatal, 1, and/or Myokymia, included
  • potassium voltage-gated channel subfamily Q member 2
    • potassium channel, voltage-gated, subfamily Q, member 2
    • potassium voltage-gated channel, KQT-like subfamily, member 2
2013
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
2011

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