Neurodevelopment-Expanded
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000560603.7
- Last updated: 2019-04-24
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
Offered by Ambry Genetics
- Overview
- How To Order
- Indication
- Methodology
- Performance
Characteristics - Interpretation
- Laboratory
Contact
Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: 7028
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Neurodevelopment-Expanded
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic
308 conditions tested. Click Indication tab for more information.
- NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (NDHMSR)
- 22q13.3 deletion syndrome (PHMDS)
- ATR-X syndrome (ATRX)
- Aarskog syndrome (AAS)
- Acquired hemoglobin H disease (ATMDS)
- Acute myeloid leukemia (AML)
- Adrenoleukodystrophy (ALD)
- Adult neuronal ceroid lipofuscinosis (CLN4A)
- Allan-Herndon-Dudley syndrome (AHDS)
- Alternating hemiplegia of childhood 1 (AHC1)
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Angelman syndrome (AS)
- Arginine:glycine amidinotransferase deficiency (L-Arginine) (Arginine)
- Asperger syndrome X-linked 1 (ASPGX1)
- Asperger syndrome X-linked 2 (ASPGX2)
- Ataxia-oculomotor apraxia 4 (AOA4)
- Athabaskan brainstem dysgenesis (ABDS)
- Atrial fibrillation, familial, 13 (ATFB13)
- Atrophia bulborum hereditaria (ND)
- Autism 15 (AUTS15)
- Autism, susceptibility to, 18 (AUTS18)
- Autism, susceptibility to, X-linked 1 (AUTSX1)
- Autism, susceptibility to, X-linked 2 (AUTSX2)
- Autism, susceptibility to, X-linked 3 (AUTSX3)
- Autism, susceptibility to, X-linked 4 (AUTSX4)
- Autism, susceptibility to, X-linked 5 (AUTSX5)
- Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)
- Bannayan-Riley-Ruvalcaba syndrome (BRRS)
- Benign familial neonatal seizures 1 (BFNS1)
- Benign familial neonatal seizures 2 (BFNS2)
- Benign familial neonatal-infantile seizures (BFIS3)
- Borjeson-Forssman-Lehmann syndrome (BFLS)
- Brugada syndrome 3 (BRGDA3)
- Brugada syndrome 5 (BRGDA5)
- CHARGE association (CHARGE)
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (CDG2M)
- Cataract 40 (CTRCT40)
- Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
- Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ3)
- Cerebral folate deficiency
- Ceroid lipofuscinosis neuronal 1 (CLN1)
- Ceroid lipofuscinosis neuronal 10 (CLN10)
- Ceroid lipofuscinosis neuronal 2 (CLN2)
- Ceroid lipofuscinosis neuronal 4B autosomal dominant (CLN4B)
- Ceroid lipofuscinosis neuronal 5 (CLN5)
- Ceroid lipofuscinosis neuronal 6 (CLN6)
- Ceroid lipofuscinosis neuronal 7 (CLN7)
- Ceroid lipofuscinosis neuronal 8 (CLN8)
- Ceroid lipofuscinosis, neuronal, 11 (CLN11)
- Ceroid lipofuscinosis, neuronal, 13 (CLN13)
- Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
- Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (SCAR7)
- Christianson syndrome (MRXSCH)
- Chromosome 2q32-q33 deletion syndrome (GLASS)
- Chromosome 9q deletion syndrome (KLEFS1)
- Coffin-Lowry syndrome (CLS)
- Coffin-Siris syndrome 1 (CSS1)
- Cognitive impairment with or without cerebellar ataxia (CIAT)
- Cohen syndrome (COH1)
- Congenital muscular hypertrophy-cerebral syndrome (CDLS2)
- Corneal dystrophy, Fuchs endothelial, 3 (FECD3)
- Cornelia de Lange syndrome 1 (CDLS1)
- Cornelia de Lange syndrome 3 (CDLS3)
- Cornelia de Lange syndrome 4 (CDLS4)
- Cornelia de Lange syndrome 5 (CDLS5)
- Corpus callosum, partial agenesis of, X-linked
- Cowden syndrome 1 (CWS1)
- Creatine deficiency, X-linked (CCDS1)
- Cutaneous malignant melanoma 1 (CMM1)
- Cutis laxa, X-linked (OHS)
- DOORS syndrome (DOORS), lab preferred: Digitorenocerebral syndrome
- Danon disease
- Deafness, autosomal dominant 65 (DFNA65)
- Deafness, autosomal recessive 86 (DFNB86)
- Deficiency of guanidinoacetate methyltransferase (CCDS2)
- Dent disease 2
- Distal spinal muscular atrophy, X-linked 3 (SMAX3)
- Dystonia 10 (EKD1)
- Dystonia 9 (DYT9)
- Early infantile epileptic encephalopathy 10 (MCSZ)
- Early infantile epileptic encephalopathy 11 (EIEE11)
- Early infantile epileptic encephalopathy 12 (EIEE12)
- Early infantile epileptic encephalopathy 13 (EIEE13)
- Early infantile epileptic encephalopathy 14 (EIEE14)
- Early infantile epileptic encephalopathy 15 (EIEE15)
- Early infantile epileptic encephalopathy 16 (EIEE16)
- Early infantile epileptic encephalopathy 17 (EIEE17)
- Early infantile epileptic encephalopathy 18 (EIEE18)
- Early infantile epileptic encephalopathy 2 (EIEE2)
- Early infantile epileptic encephalopathy 4 (EIEE4)
- Early infantile epileptic encephalopathy 5 (EIEE5)
- Early infantile epileptic encephalopathy 7 (EIEE7)
- Early infantile epileptic encephalopathy 8 (EIEE8)
- Early infantile epileptic encephalopathy 9 (EIEE9)
- Early myoclonic encephalopathy (EIEE3)
- Ehlers-Danlos syndrome, type 5 (CVD1), lab preferred: Cardiac valvular dysplasia, X-linked
- Endometrial carcinoma
- Enlarged vestibular aqueduct (DFNB4)
- Epilepsy, X-linked, with variable learning disabilities and behavior disorders
- Epilepsy, childhood absence 2 (FEB8)
- Epilepsy, childhood absence 5 (ECA5)
- Epilepsy, familial focal, with variable foci 1 (FPEVF)
- Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
- Epilepsy, idiopathic generalized, susceptibility to, 12 (EIG12)
- Epilepsy, juvenile myoclonic 5 (EIG13)
- Epilepsy, lateral temporal lobe, autosomal dominant (ETL1)
- Epilepsy, nocturnal frontal lobe, 5 (ENFL5)
- Epilepsy, nocturnal frontal lobe, type 1 (ENFL1)
- Epilepsy, nocturnal frontal lobe, type 3 (ENFL3)
- Epilepsy, nocturnal frontal lobe, type 4 (ENFL4)
- Epilepsy, progressive myoclonic 3 (EPM3)
- Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)
- Epilepsy, progressive myoclonic 6 (EPM6)
- Epilepsy, progressive myoclonic 7 (EPM7)
- Epileptic encephalopathy, childhood-onset (EEOC)
- Epileptic encephalopathy, early infantile, 1 (EIEE1)
- Epileptic encephalopathy, early infantile, 19 (EIEE19)
- Epileptic encephalopathy, early infantile, 24 (EIEE24)
- Epileptic encephalopathy, early infantile, 25 (EIEE25)
- Epileptic encephalopathy, early infantile, 27 (EIEE27)
- Epileptic encephalopathy, early infantile, 30 (EIEE30)
- Epileptic encephalopathy, early infantile, 31 (EIEE31)
- Epileptic encephalopathy, early infantile, 32 (EIEE32)
- Epileptic encephalopathy, early infantile, 33 (EIEE33)
- Epileptic encephalopathy, early infantile, 36 (EIEE36)
- Epileptic encephalopathy, early infantile, 42 (EIEE42)
- Epileptic encephalopathy, early infantile, 43 (EIEE43)
- Epileptic encephalopathy, early infantile, 52 (EIEE52)
- Epileptic encephalopathy, early infantile, 54 (EIEE54)
- Episodic ataxia type 2 (EA2)
- FG syndrome (OKS)
- FG syndrome 2 (FGS2)
- Familial exudative vitreoretinopathy, X-linked (EVR2)
- Familial febrile seizures 8 (FEB8)
- Familial hemiplegic migraine type 1 (FHM1)
- Familial hemiplegic migraine type 2 (FHM2)
- Familial hemiplegic migraine type 3 (FHM3)
- Focal cortical dysplasia type II (FCORD2)
- Focal dermal hypoplasia (FDH)
- Fragile X syndrome (FXS)
- Fragile X tremor/ataxia syndrome (FXTAS)
- Frontometaphyseal dysplasia (FMD1)
- Frontotemporal dementia, ubiquitin-positive (HDDD)
- GLUT1 deficiency syndrome 1 (GLUT1DS1)
- GLUT1 deficiency syndrome 2 (GLUT1DS2)
- Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1)
- Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)
- Generalized epilepsy with febrile seizures plus, type 9 (GEFSP9)
- Glioma susceptibility 2 (GLM2)
- Helsmoortel-Van der Aa Syndrome (HVDAS), lab preferred: Helsmoortel-van der aa syndrome
- Hereditary sensory and autonomic neuropathy type IIC (HSN2C)
- Infantile convulsions and paroxysmal choreoathetosis, familial (ICCA)
- Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
- Joubert syndrome 10 (JBTS10)
- Juvenile myelomonocytic leukemia (JMML)
- Juvenile neuronal ceroid lipofuscinosis (CLN3)
- KBG syndrome (KBGS)
- Kallmann syndrome 5 (KAL5)
- LEOPARD syndrome 1 (LPRD1)
- Lafora disease
- Lesch-Nyhan syndrome (LNS)
- Lissencephaly 2, X-linked (LISX2)
- Lissencephaly, X-linked (LISX1)
- Lowe syndrome (OCRL)
- Lymphangiomyomatosis (LAM)
- MECP2 duplication syndrome (MRXSL)
- MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 (MRXS35)
- Macrocephaly/autism syndrome
- Macular dystrophy with central cone involvement (CCMD)
- Malignant tumor of prostate
- Melnick-Needles syndrome (MNS)
- Meningioma, familial
- Menkes kinky-hair syndrome (MK)
- Mental retardation 30, X-linked (MRX30)
- Mental retardation 63, X-linked (MRX63)
- Mental retardation 9, X-linked (MRX9)
- Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
- Mental retardation with language impairment and with or without autistic features
- Mental retardation, X-linked 1 (MRX1)
- Mental retardation, X-linked 102 (MRX102)
- Mental retardation, X-linked 19 (MRX19)
- Mental retardation, X-linked 72 (MRX72)
- Mental retardation, X-linked 93 (MRX93)
- Mental retardation, X-linked 98 (MRX98)
- Mental retardation, X-linked, syndromic 13 (MRXS13)
- Mental retardation, X-linked, syndromic, Turner type (MRXST), lab preferred: Mental retardation, X-linked, syndromic, turner type
- Mental retardation, X-linked, syndromic, wu type (MRXSW)
- Mental retardation, autosomal dominant 1 (MRD1)
- Mental retardation, autosomal dominant 13 (MRD13)
- Mental retardation, autosomal dominant 15 (CSS3)
- Mental retardation, autosomal dominant 16 (CSS4)
- Mental retardation, autosomal dominant 21 (MRD21)
- Mental retardation, autosomal dominant 31 (MRD31)
- Mental retardation, autosomal dominant 32 (MRD32)
- Mental retardation, autosomal dominant 38 (MRD38)
- Mental retardation, autosomal dominant 41 (MRD41), lab preferred: Fitzsimmons-Guilbert syndrome
- Mental retardation, autosomal dominant 5 (MRD5)
- Mental retardation, autosomal dominant 6 (MRD6)
- Mental retardation, autosomal dominant 7 (MRD7)
- Mental retardation, autosomal dominant 9 (MRD9)
- Mental retardation, autosomal recessive 12 (MRT12)
- Mental retardation, autosomal recessive 13 (MRT13)
- Mental retardation, autosomal recessive 15 (MRT15)
- Mental retardation, autosomal recessive 18 (MRT18)
- Mental retardation, autosomal recessive 27 (MRT27)
- Mental retardation, autosomal recessive 3 (MRT3)
- Mental retardation, autosomal recessive 5 (MRT5)
- Mental retardation, autosomal recessive 7 (MRT7)
- Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MRD20)
- Mental retardation, syndromic 14, X-linked (MRXS14)
- Mental retardation, syndromic, Claes-Jensen type, X-linked (MRXSCJ)
- Mental retardation, with or without seizures, ARX-related, X-linked (MRXARX)
- Mental retardation-hypotonic facies syndrome X-linked, 1 (MRXHF1)
- Metachondromatosis (METCDS)
- Mitochondrial DNA depletion syndrome 4B, MNGIE type (MTDPS4B)
- Mitochondrial complex I deficiency
- Mohr-Tranebjaerg syndrome (MTS)
- Monoamine oxidase A deficiency (BRNRS)
- Mowat-Wilson syndrome (MOWS)
- Mucopolysaccharidosis, MPS-II (MPS2)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)
- Myasthenic syndrome, congenital, 18 (CMS18)
- Myoclonic epilepsy, familial infantile (FIME)
- Myoclonic-atonic epilepsy (MAE)
- Nance-Horan syndrome (NHS)
- Neural tube defect (NTD)
- Neurodegeneration with brain iron accumulation 5 (NBIA5)
- Neurodevelopmental disorder with involuntary movements (NEDIM)
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD)
- Nicolaides-Baraitser syndrome (NCBRS)
- Noonan syndrome 1 (NS1)
- Ohdo syndrome, X-linked (OHDOX)
- Opitz-Frias syndrome (GBBB1)
- Oral-facial-digital syndrome (OFD1)
- Ornithine carbamoyltransferase deficiency (OTCD)
- Oto-palato-digital syndrome, type I (OPD1)
- Oto-palato-digital syndrome, type II (OPD2)
- Parkinson disease 9 (KRS)
- Parkinsonism, early onset with mental retardation (WSMN)
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (HRH)
- Partington X-linked mental retardation syndrome (PRTS)
- Pelizaeus-Merzbacher disease (PMD)
- Periventricular nodular heterotopia 1 (PVNH1)
- Pettigrew syndrome (PGS)
- Pierpont syndrome (PRPTS)
- Pitt-Hopkins syndrome (PTHS)
- Pitt-Hopkins-like syndrome 1 (PTHSL1)
- Pitt-Hopkins-like syndrome 2 (PTHSL2)
- Premature ovarian failure 1 (POF1)
- Progressive myoclonus epilepsy with ataxia (EPM1B)
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Proud Levine Carpenter syndrome
- Pyridoxal 5'-phosphate-dependent epilepsy (PNPOD)
- Pyridoxine-dependent epilepsy (EPD)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
- Renpenning syndrome 1 (RENS1)
- Retinitis Pigmentosa 23 (RP23)
- Rett syndrome (RTT)
- Rett syndrome, congenital variant
- Rhabdoid tumor predisposition syndrome 1 (RTPS1)
- Rhabdoid tumor predisposition syndrome 2 (RTPS2)
- Rubinstein-Taybi syndrome
- Sacral agenesis with vertebral anomalies (SAVA)
- Schizophrenia 15 (SCZD15)
- Schizophrenia 17 (SCZD17)
- Schuurs-hoeijmakers syndrome (SHMS)
- Schwannomatosis 1 (SWNTS1)
- SeSAME syndrome (SESAMES)
- Seizures, benign familial infantile, 2 (BFIS2)
- Seizures, benign familial infantile, 5 (BFIS5)
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
- Severe myoclonic epilepsy in infancy (EIEE6)
- Severe neonatal-onset encephalopathy with microcephaly
- Siderius X-linked mental retardation syndrome (MRXSSD)
- Simpson-Golabi-Behmel syndrome (SGBS1)
- Simpson-Golabi-Behmel syndrome, type 2 (SGBS2)
- Smith-Lemli-Opitz syndrome (SLOS)
- Smith-Magenis syndrome (SMS)
- Sotos syndrome 1 (SOTOS1)
- Spastic paraplegia 1 (SPG1)
- Spastic paraplegia 2 (SPG2)
- Spastic paraplegia 30, autosomal recessive (SPG30)
- Spastic paraplegia 47, autosomal recessive (SPG47)
- Spastic paraplegia 78, autosomal recessive (SPG78)
- Speech-language disorder 1 (SPCH1)
- Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant (SMALED1)
- Spinocerebellar ataxia 6 (SCA6)
- Squamous cell carcinoma of the head and neck (HNSCC)
- Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)
- Syndromic X-linked mental retardation, Cabezas type (MRXSC)
- Syndromic mental retardation, Nascimento type, X-linked (MRXSN)
- Terminal osseous dysplasia (TOD)
- Timothy syndrome (TS)
- Tobacco addiction, susceptibility to
- Tuberous sclerosis 1 (TSC1)
- Tuberous sclerosis 2 (TSC2)
- Unverricht-Lundborg syndrome
- VACTERL association with hydrocephalus
- White-sutton syndrome (WHSUS)
- Wieacker Wolff syndrome (WRWF)
- Wilms tumor 1 (WT1)
- X-Linked Mental Retardation 41 (MRX41)
- X-Linked mental retardation 90 (MRX90)
- X-linked hydrocephalus syndrome (HSAS)
- X-linked mental retardation with marfanoid habitus syndrome
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
196 genes and variants. Click Methodology tab for more information.
Genes
- Gene: ABCD1 (Xq28)
- Gene: ACSL4 (Xq23)
- Gene: ADNP (20q13.13)
- Gene: ALDH7A1 (5q23.2)
- Gene: ALG13 (Xq23)
- Gene: ANKRD11 (16q24.3)
- Gene: AP1S2 (Xp22.2)
- Gene: AP4B1 (1p13.2)
- Gene: ARHGEF9 (Xq11.1)
- Gene: ARID1B (6q25.3)
- Gene: ARX (Xp21.3)
- Gene: ATP13A2 (1p36.13)
- Gene: ATP1A2 (1q23.2)
- Gene: ATP7A (Xq21.1)
- Gene: ATRX (Xq21.1)
- Gene: BRWD3 (Xq21.1)
- Gene: CA8 (8q12.1)
- Gene: CACNA1A (19p13.13)
- Gene: CACNA1C (12p13.33)
- Gene: CASK (Xp11.4)
- Gene: CC2D1A (19p13.12)
- Gene: CDKL5 (Xp22.13)
- Gene: CHD2 (15q26.1)
- Gene: CHD7 (8q12.2)
- Gene: CHD8 (14q11.2)
- Gene: CHRNA2 (8p21.2)
- Gene: CHRNA4 (20q13.33)
- Gene: CHRNB2 (1q21.3)
- Gene: CLN3 (16p12.1)
- Gene: CLN5 (13q22.3)
- Gene: CLN6 (15q23)
- Gene: CLN8 (8p23.3)
- Gene: CNTNAP2 (7q35-36.1)
- Gene: CREBBP (16p13.3)
- Gene: CRH (8q13.1)
- Gene: CSTB (21q22.3)
- Gene: CTCF (16q22.1)
- Gene: CTSD (11p15.5)
- Gene: CTSF (11q13.2)
- Gene: CUL4B (Xq24)
- Gene: DCX (Xq23)
- Gene: DDX3X (Xp11.4)
- Gene: DEPDC5 (22q12.2-12.3)
- Gene: DHCR7 (11q13.4)
- Gene: DLG3 (Xq13.1)
- Gene: DNAJC5 (20q13.33)
- Gene: DNM1 (9q34.11)
- Gene: DYNC1H1 (14q32.31)
- Gene: DYRK1A (21q22.13)
- Gene: EEF1A2 (20q13.33)
- Gene: EHMT1 (9q34.3)
- Gene: EPM2A (6q24.3)
- Gene: FGD1 (Xp11.22)
- Gene: FLNA (Xq28)
- Gene: FMR1 (Xq27.3)
- Gene: FOLR1 (11q13.4)
- Gene: FOXG1 (14q12)
- Gene: FOXP1 (3p13)
- Gene: FOXP2 (7q31.1)
- Gene: FTSJ1 (Xp11.23)
- Gene: GABRA1 (5q34)
- Gene: GABRB3 (15q12)
- Gene: GABRG2 (5q34)
- Gene: GAMT (19p13.3)
- Gene: GATM (15q21.1)
- Gene: GDI1 (Xq28)
- Gene: GNAO1 (16q13)
- Gene: GOSR2 (17q21.32)
- Gene: GPC3 (Xq26.2)
- Gene: GRIA3 (Xq25)
- Gene: GRIN1 (9q34.3)
- Gene: GRIN2A (16p13.2)
- Gene: GRIN2B (12p13.1)
- Gene: GRN (17q21.31)
- Gene: HCN1 (5p12)
- Gene: HDAC8 (Xq13.1)
- Gene: HNRNPU (1q44)
- Gene: HOXA1 (7p15.2)
- Gene: HPRT1 (Xq26.2-26.3)
- Gene: HUWE1 (Xp11.22)
- Gene: IDS (Xq28)
- Gene: IQSEC2 (Xp11.22)
- Gene: KAT6A (8p11.21)
- Gene: KATNAL2 (18q21.1)
- Gene: KCNA2 (1p13.3)
- Gene: KCNC1 (11p15.1)
- Gene: KCNJ10 (1q23.2)
- Gene: KCNQ2 (20q13.33)
- Gene: KCNQ3 (8q24.22)
- Gene: KCNT1 (9q34.3)
- Gene: KCTD7 (7q11.21)
- Gene: KDM5C (Xp11.22)
- Gene: KIF1A (2q37.3)
- Gene: L1CAM (Xq28)
- Gene: LAMP2 (Xq24)
- Gene: LGI1 (10q23.33)
- Gene: LINS1 (15q26.3)
- Gene: MAN1B1 (9q34.3)
- Gene: MAOA (Xp11.3)
- Gene: MBD5 (2q23.1)
- Gene: MECP2 (Xq28)
- Gene: MED12 (Xq13.1)
- Gene: MED23 (6q23.2)
- Gene: MEF2C (5q14.3)
- Gene: MFSD8 (4q28.2)
- Gene: MID1 (Xp22.2)
- Gene: NDP (Xp11.3)
- Gene: NDUFA1 (Xq24)
- Gene: NEXMIF (Xq13.3)
- Gene: NHLRC1 (6p22.3)
- Gene: NHS (Xp22.2-22.13)
- Gene: NIPBL (5p13.2)
- Gene: NLGN3 (Xq13.1)
- Gene: NLGN4X (Xp22.32-22.31)
- Gene: NRXN1 (2p16.3)
- Gene: NSD1 (5q35.3)
- Gene: NSUN2 (5p15.31)
- Gene: OCRL (Xq26.1)
- Gene: OFD1 (Xp22.2)
- Gene: OPHN1 (Xq12)
- Gene: OTC (Xp11.4)
- Gene: PACS1 (11q13.1-13.2)
- Gene: PAK3 (Xq23)
- Gene: PCDH19 (Xq22.1)
- Gene: PDHA1 (Xp22.12)
- Gene: PHF6 (Xq26.2)
- Gene: PHF8 (Xp11.22)
- Gene: PIGA (Xp22.2)
- Gene: PIGN (18q21.33)
- Gene: PLCB1 (20p12.3)
- Gene: PLP1 (Xq22.2)
- Gene: PNKP (19q13.33)
- Gene: PNPO (17q21.32)
- Gene: POGZ (1q21.3)
- Gene: POLG (15q26.1)
- Gene: PORCN (Xp11.23)
- Gene: PPT1 (1p34.2)
- Gene: PQBP1 (Xp11.23)
- Gene: PRICKLE1 (12q12)
- Gene: PRRT2 (16p11.2)
- Gene: PTCHD1 (Xp22.11)
- Gene: PTEN (10q23.31)
- Gene: PTPN11 (12q24.13)
- Gene: PURA (5q31.3)
- Gene: RAB39B (Xq28)
- Gene: RAD21 (8q24.11)
- Gene: RAI1 (17p11.2)
- Gene: RPL10 (Xq28)
- Gene: RPS6KA3 (Xp22.12)
- Gene: SATB2 (2q33.1)
- Gene: SCARB2 (4q21.1)
- Gene: SCN1A (2q24.3)
- Gene: SCN1B (19q13.11)
- Gene: SCN2A (2q24.3)
- Gene: SCN8A (12q13.13)
- Gene: SHANK3 (22q13.33)
- Gene: SIK1 (21q22.3)
- Gene: SLC13A5 (17p13.1)
- Gene: SLC16A2 (Xq13.2)
- Gene: SLC25A22 (11p15.5)
- Gene: SLC2A1 (1p34.2)
- Gene: SLC35A2 (Xp11.23)
- Gene: SLC6A1 (3p25.3)
- Gene: SLC6A8 (Xq28)
- Gene: SLC9A6 (Xq26.3)
- Gene: SMARCA2 (9p24.3)
- Gene: SMARCA4 (19p13.2)
- Gene: SMARCB1 (22q11.23)
- Gene: SMC1A (Xp11.22)
- Gene: SMC3 (10q25.2)
- Gene: SMS (Xp22.11)
- Gene: SNAP25 (20p12.2)
- Gene: SPTAN1 (9q34.11)
- Gene: ST3GAL3 (1p34.1)
- Gene: STX1B (16p11.2)
- Gene: STXBP1 (9q34.11)
- Gene: SYN1 (Xp11.3-11.23)
- Gene: SYNGAP1 (6p21.32)
- Gene: SZT2 (1p34.2)
- Gene: TBC1D24 (16p13.3)
- Gene: TBL1XR1 (3q26.32)
- Gene: TBR1 (2q24.2)
- Gene: TCF4 (18q21.2)
- Gene: TIMM8A (Xq22.1)
- Gene: TPP1 (11p15.4)
- Gene: TRAPPC9 (8q24.3)
- Gene: TSC1 (9q34.13)
- Gene: TSC2 (16p13.3)
- Gene: TUSC3 (8p22)
- Gene: UBE2A (Xq24)
- Gene: UBE3A (15q11.2)
- Gene: UPF3B (Xq24)
- Gene: VPS13B (8q22.2)
- Gene: WDR45 (Xp11.23)
- Gene: ZC4H2 (Xq11.2)
- Gene: ZEB2 (2q22.3)
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Clinical validity depends on specific clinical and family history.
Citations
Not provided
Not provided
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.ambrygen.com/clinician/ordering-process
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 5555
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.