Ordering
  • Test code: 55004
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
Billing
 

Invitae Cerebral Palsy Spectrum Disorders Panel

Test description

The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture (PMID: 25280894,30913345).

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Primary panel (265 genes)

ABAT ACADM ACADVL ACAT1 ACBD5 ACOX1 ADAR ADCY5 ADD3 ADSL AHI1 AKT3 ALDH3A2 ALDH5A1 ALDH7A1 ALG13 ALS2 AMACR AMPD2 AMT AP4B1 AP4E1 AP4M1 AP4S1 APTX ARG1 ARHGEF9 ARSA ARX ASL ASNS ASPA ASS1 ASXL1 ATAD1 ATM ATP13A2 ATP1A3 ATP7A ATP7B ATP8A2 AUH BCKDHA BCKDHB BTD C19orf12 CACNA1A CBS CDKL5 CEP290 CHRNA1 CLN2 (TPP1) CLN3 COASY COL4A1 COQ2 COQ4 COQ6 COQ7 COQ8A COQ9 CP CPS1 CTNNB1 CTSB CYP27A1 CYP2U1 DBH DBT DCAF17 DDC DGKZ DHFR DLAT DLD DMD DNAJC12 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EPHA4 ETFA ETFB ETFDH ETHE1 FAM126A FH FOLR1 FOXG1 FRRS1L FTL FUCA1 GABRA2 GAD1 GALC GAMT GATM GCDH GCH1 GFAP GJC2 GLB1 GLDC GLRA1 GLRB GM2A GNAO1 GNB1 GPHN GPR88 GRIN1 HESX1 HEXA HLCS HMGCL HPRT1 HSD17B10 HSD17B4 IFIH1 ITPA ITPR1 KANK1 KCNC3 KCNJ6 KDM5C KIDINS220 KIF1A KMT2C L1CAM L2HGDH LAMA2 LIAS LMBRD1 MAOA MCCC1 MCCC2 MCEE MECP2 MMAA MMAB MMACHC MMADHC MOCS1 MOCS2 MOCS3 MPC1 MTHFR MTOR MTR MTRR MTTP MUT NAA10 NAGS NBAS NGLY1 NIPA1 NKX2-1 NPC1 NPC2 NPHP1 OTC PAFAH1B1 PAH PAK3 PALM PANK2 PCBD1 PCCA PCCB PCDH12 PDE10A PDE2A PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PIK3CA PLA2G6 PLP1 PLXNA2 PNP PNPO POLG POLR3A PPT1 PROSC PSAT1 PSPH PTS QDPR RANBP2 RNASEH2A RNASEH2B RNASEH2C RNASET2 SAMHD1 SCN1A SCN2A SCN3A SCN8A SETD5 SHH SIX3 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A4 SLC25A15 SLC25A22 SLC2A1 SLC30A10 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SPAST SPG11 SPR SPTBN2 SQSTM1 ST3GAL5 STXBP1 SUCLA2 SUCLG1 SUOX SURF1 TBC1D24 TBCK TBL1XR1 TCF4 TGIF1 TH TMEM67 TREX1 TSEN54 TTPA TUBA1A TUBB4A UBE3A WDR45 WDR62 ZFYVE26 ZIC1 ZIC2

  • GABA-transaminase deficiency
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Very long chain acyl-CoA dehydrogenase deficiency
  • Beta-ketothiolase deficiency
  • Cone-rod dystrophy and white matter disease
  • Acyl-CoA oxidase deficiency
  • Aicardi Goutieres syndrome
  • ADCY5-related dyskinesia
  • Aicardi-Goutieres syndrome
  • Adenylosuccinate lyase deficiency (ADSL)
  • Atypical cerebral palsy
  • Megalencephaly,-polymicrogyria-hydrocephalus 2 (MPHH2)
  • Sjogren-Larsson syndrome
  • Succinic semialdehyde dehydrogenase deficiency (SSADH)
  • ALG13-congenital disorder of glycosylation (CDG-Is)
  • Infantile onset-ascending hereditary spastic paraplegia (IAHSP)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Pontocerebellar hypoplasia, type 9 (PCH9) SPG63
  • Glycine encephalopathy
  • Hereditary spastic paraplegia 47 (SPG47)
  • Hereditary spastic paraplegia 51 (SPG51)
  • Hereditary spastic paraplegia 50 (SPG50)
  • Hereditary spastic paraplegia 52 (SPG52)
  • Oculomotor apraxia type I (AOA1)
  • Arginase deficiency
  • Hereditary hyperekplexia/EIEE 8
  • Metachromatic leukodystrophy
  • Argininosuccinate deficiency
  • Asparagine synthetase deficiency (ASNS)
  • Canavan disease
  • Citrullinemia type I
  • Bohring-Opitz syndrome (BOS)
  • Hyperekplexia-4
  • Ataxia-telangiectasia (A-T)
  • Kufor-Rakeb syndrome (KRS) PARK9 (SPG78)
  • Dystonia 12 (DYT12), CAPOS syndrome, and alternating hemiplegia of childhood type 2 (AHC2)
  • Menkes disease. occipital horn syndrome, distal hereditary motor neuropathy
  • Wilson disease
  • Cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4)
  • 3-Methylglutaconic aciduria
  • Maple syrup urine disease
  • Biotinidase deficiency
  • Membrane protein-associated neurodegeneration (MPAN)
  • Early onset infantile epileptic encephalopathy (EIEE), episodic ataxia type 2 (EA2), familial hemiplegic migraine type I
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Early infantile epileptic encephalopathy/West syndrome, atypical Rett syndrome, Angelman-like syndrome
  • Congenital myasthenic syndrome
  • Neuronal ceroid lipofuscinosis type 3 (CLN3)
  • COASY protein-associated neurodegeneration (CoPan)
  • COL4A1-related disorders
  • Early infantile epileptic encephalopathy
  • Aceruloplasminemia
  • Carbamoyl phosphate synthetase 1 (CPS1) deficiency
  • CTNNB1-related intellectual disability
  • Cerebrotendinous xanthomatosis
  • Hereditary spastic paraplegia 56 (SPG56)
  • Dopamine beta-hydroxylase deficiency
  • Woodhouse-Sakati syndrome (WSS)
  • Aromatic L-amino acid decarboxylase deficiency
  • Holoprosencephaly
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Pyruvate dehydrogenase deficiency E2 (PDHE2)
  • Dihydrolipoamide dehydrogenase deficiency
  • Duchenne muscular dystrophy/Becker muscular dystrophy
  • Hyperphenylalaninemia
  • Leukoencephalopathy with vanishing white matter
  • Joubert syndrome
  • Multiple acyl-CoA dehydrogenase deficiency/Glutaric acidemia type II
  • Ethylmalonic encephalopathy
  • Hypomyelination and congenital cataracts (HCC)
  • Fumarate hydratase deficiency
  • Cerebral folate deficiency
  • Congenital/atypical Rett syndrome
  • Neurodegeneration with neuroferritinopathy
  • Fucosidosis
  • Kleefstra syndrome
  • Krabbe disease
  • Guanidinoacetate methyltransferase deficiency (GAMT)
  • Cerebral creatine deficiency due to arginine:glycine amidinotransferase deficiency (AGAT)
  • Glutaric acidemia type 1
  • Dopa-responsive dystonia (DRD) and GTP cyclohydrolase deficiency
  • Alexander disease
  • Hereditary spastic paraplegia 44 (SPG44) and hypomyelinating leukodystrophy 2
  • GM1 gangliosidosis, MPS IVB
  • Hyperekplexia type 1 (HKPX1)
  • Hyperekplexia type 2 (HKPX2)
  • GM2-gangliosidosis, AB variant
  • Early infantile epileptic encephalopathy and neurodevelopmental disorder with involuntary movements (NEDIM)
  • Intellectual disability 42
  • Childhood onset chorea with psychomotor impairment
  • Early infantile epileptic encephalopathy, intellectual disability
  • Septo-optic dysplasia
  • Tay-Sachs disease
  • Holocarboxylase synthetase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (3HMG)
  • HPRT1 deficiency/Lesch Nyhan syndrome
  • 2-Methyl-3-hydroxybutyric aciduria
  • D-bifunctional protein deficiency (DBP)
  • Molybdenum cofactor deficiency
  • Inosine triphosphate pyrophosphohydrolase deficiency
  • Spinocerebellar ataxia type 15, Spinocerebellar ataxia type 29
  • Spastic quadriplegic cerebral palsy and intellectual disability
  • Spinocerebellar ataxia type 13
  • Keppen-Lubinsky syndrome
  • X linked intellectual disability, Claus-Jensen type
  • Spastic paraplegia, nystagmus and obesity
  • Hereditary sensory neuropathy type 2C and spastic paraplegia 30 (SPG30)
  • Hereditary spastic paraplegia 1 (SPG1)
  • L-2-hydroxyglutaric aciduria
  • LAMA2- related muscular dystrophy
  • Hyperglycinemia, lactic acidosis and seizures (HGCLAS)
  • Methylmalonic aciduria with homocystinuria due to cobalamin F deficiency
  • Monoamine oxidase deficiency / Brunner syndrome
  • 3 Methylcrotonyl-CoA carboxylase deficiency
  • Methylmalonyl-CoA epimerase deficiency
  • Rett syndrome
  • Methylmalonic aciduria cobalamin A type (MMACblA)
  • Methylmalonic aciduria cobalamin B type (MMACblB)
  • Methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency
  • Methylmalonic aciduria with homocystinuria due to cobalamin D (cblD) deficiency
  • Primary coenzyme Q10 deficiency
  • Mitochondrial pyruvate carrier deficiency (MPYCD)
  • Severe MTHFR deficiency
  • Smith-Kingsmore syndrome (SKS)
  • Cobalamin G (cblG) deficiency
  • Cobalamin E (cblE) deficiency
  • Abetalipoproteinemia
  • Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
  • Ogden syndrome
  • N-acetylglutamate synthase deficiency
  • NGLY1-congenital disorder of glycosylation (CDG-Iv)
  • Hereditary spastic paraplegia 6 (SPG6)
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
  • Niemann-Pick disease type C1
  • Nephronophthisis
  • Ornithine transcarbamylase deficiency
  • PAFAH1B1-related lissencephaly
  • Phenylketonuria
  • Intellectual disability 30 (XLID30)
  • Pantothenate kinase-associated neurodegeneration(PKAN)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia
  • Diencephalic-mesencephalic junction dysplasia syndrome
  • Phosphodiesterase 10A
  • Early onset chorea
  • Pyruvate dehydrogenase E-1 alpha (PDHE-1 alpha) deficiency
  • Pyruvate dehydrogenase complex deficiency
  • Primary coenzyme Q10 deficiency 2 (COQ10D2)
  • Primary coenzyme Q10 deficiency 3 (COQ10D3)
  • Phosphoglycerate dehydrogenase deficiency
  • PIK3CA-related spectrum of overgrowth syndromes (PROS)
  • PLA2G6-associated neurodegeneration (PLAN), neuroaxonal dystrophy (NAD) and Parkinson disease 14 (PARK14)
  • Spastic paraplegia 2 (SPG2) and Pelizaeus-Merzbacher disease (PMD)
  • Propionic acidemia
  • Purine nucleoside phosphorylase deficiency
  • Pyridoxal 5’-phosphate-dependent epilepsy
  • POLG-related disorders, Alpers-Huttenlocher (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), progressive external ophthalmoplegia, ataxia neuropathy spectrum (ANS)
  • Hypomyelinating leukodystrophy 7, Wiedemann-Rautenstrauch syndrome
  • Neuronal ceroid lipofuscinosis 1 (CLN1)
  • Phosphoserine aminotransferase deficiency (PSAT)
  • Phosphoserine phosphatase deficiency (PSPHD)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvate tetrahydropterin synthase deficiency
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR)
  • Infection-induced acute necrotizing encephalopathy
  • Pyridoxine-dependent epilepsy
  • Cystic leukoencephalopathy
  • Spectrum of autosomal dominant SCN1A seizure disorders and familial hemiplegic migraine (FHM3)
  • SCN2A-related benign familial neonatal-infantile seizures, early infantile epileptic encephalopathy and episodic ataxia
  • Childhood onset epilepsy
  • Early infantile epileptic encephalopathy, dystonia
  • SETD5-related neurodevelopmental syndrome
  • SHH-related Holoprosencephaly
  • SIX3-related Holoprosencephaly
  • Allan-Herndon-Dudley syndrome
  • Infantile free sialic acid storage disorder (ISSD)
  • Brain dopamine-serotonin vesicular transport disease
  • Biotin-responsive basal ganglia disease (BGBD)
  • Spastic tetraplegia, thin corpus callosum and progressive microcephaly (SPATCCM)
  • Hyperornithinemia-hyperammonemia-homocystinuria (HHH) syndrome
  • Glucose transporter type 1 deficiency
  • Hypermanganesemia with dystonia
  • Hartnup disease
  • Infantile parkinsonism-dystonia (PKDYS1)
  • Hyperekplexia 3
  • Creatine transporter deficiency
  • Hereditary spastic paraplegia 4 (SPG4)
  • Hereditary spastic paraplegia 11 (SPG11)
  • Sepiapterin reductase deficiency
  • Spinocerebellar ataxia 5 (SCA5), spinocerebellar ataxia 14 (SCA14)
  • Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP)
  • GM2 synthase deficiency
  • Spastic quadriplegic cerebral palsy
  • Succinate-CoA ligase deficiency
  • Mitochondrial DNA depletion syndrome
  • Sulfite oxidase deficiency
  • Leigh syndrome due to mitochondrial complex IV deficiency
  • Early infantile epileptic encephalopathy, familial infantile myoclonic epilepsy
  • Infantile hypotonia with intellectual disability and characteristic facies
  • Pierpont syndrome
  • Pitt-Hopkins syndrome
  • Tyrosine hydroxylase deficiency
  • Zellweger spectrum disorder (ZSD)
  • Neuronal ceroid lipofuscinosis 2 (CLN2)
  • Aicardi-Goutieres syndrome 1 (AGS1), Retinal vasculopathy with cerebral leukodystrophy
  • Pontocerebellar hypoplasia
  • Ataxia with vitamin E deficiency (AVED)
  • Tubulin-related cortical malformations
  • Dystonia 4 (DYT4) and hypomyelinating leukodystrophy 6 (HLD6)
  • Angelman syndrome
  • Beta-propeller protein-associated neurodegeneration (BPAN), early infantile epileptic encephalopathy
  • Primary microcephaly
  • Hereditary spastic paraplegia 15 (SPG15)
  • Structural brain anomalies with impaired intellectual development and craniosynostosis

To view the complete clinical description of this panel, click here.

Inherited cerebral palsy conditions can occur in several inheritance patterns, including autosomal recessive, autosomal dominant, and X-linked. Several conditions can be in both autosomal recessive and autosomal dominant forms.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABAT NM_020686.5
ACADM NM_000016.5
ACADVL NM_000018.3
ACAT1 NM_000019.3
ACBD5 NM_145698.4
ACOX1 NM_004035.6
ADAR NM_001111.4
ADCY5 NM_183357.2
ADD3 NM_016824.4
ADSL NM_000026.2
AHI1 NM_017651.4
AKT3 NM_005465.4
ALDH3A2 NM_000382.2
ALDH5A1 NM_001080.3
ALDH7A1 NM_001182.4
ALG13 NM_001099922.2
ALS2 NM_020919.3
AMACR NM_014324.5
AMPD2 NM_001257360.1
AMT NM_000481.3
AP4B1 NM_006594.3
AP4E1 NM_007347.4
AP4M1 NM_004722.3
AP4S1 NM_007077.4
APTX NM_175073.2
ARG1 NM_000045.3
ARHGEF9 NM_015185.2; NM_001173479.1
ARSA NM_000487.5
ARX* NM_139058.2
ASL NM_000048.3
ASNS NM_133436.3
ASPA NM_000049.2
ASS1 NM_000050.4
ASXL1 NM_015338.5
ATAD1 NM_001321967.1
ATM* NM_000051.3
ATP13A2 NM_022089.3
ATP1A3 NM_152296.4
ATP7A NM_000052.6
ATP7B NM_000053.3
ATP8A2 NM_016529.5
AUH NM_001698.2
BCKDHA NM_000709.3
BCKDHB NM_183050.2
BTD NM_000060.3
C19orf12 NM_001031726.3
CACNA1A* NM_001127221.1
CBS NM_000071.2
CDKL5 NM_003159.2
CEP290 NM_025114.3
CHRNA1 NM_000079.3
CLN2 (TPP1) NM_000391.3
CLN3 NM_001042432.1
COASY NM_025233.6
COL4A1 NM_001845.5
COQ2 NM_015697.7
COQ4 NM_016035.4
COQ6 NM_182476.2
COQ7 NM_016138.4
COQ8A NM_020247.4
COQ9 NM_020312.3
CP NM_000096.3
CPS1 NM_001875.4
CTNNB1 NM_001904.3
CTSB NM_001908.4
CYP27A1 NM_000784.3
CYP2U1 NM_183075.2
DBH NM_000787.3
DBT NM_001918.3
DCAF17 NM_025000.3
DDC* NM_000790.3
DGKZ NM_001105540.1
DHFR NM_000791.3
DLAT NM_001931.4
DLD NM_000108.4
DMD NM_004006.2
DNAJC12 NM_021800.2
EHMT1 NM_024757.4
EIF2B1 NM_001414.3
EIF2B2 NM_014239.3
EIF2B3 NM_020365.4
EIF2B4 NM_015636.3
EIF2B5 NM_003907.2
EPHA4 NM_004438.4
ETFA NM_000126.3
ETFB NM_001985.2
ETFDH NM_004453.3
ETHE1 NM_014297.3
FAM126A NM_032581.3
FH* NM_000143.3
FOLR1 NM_016725.2
FOXG1 NM_005249.4
FRRS1L NM_014334.2
FTL NM_000146.3
FUCA1 NM_000147.4
GABRA2 NM_001330690.1
GAD1 NM_000817.2
GALC* NM_000153.3
GAMT NM_000156.5
GATM NM_001482.2
GCDH NM_000159.3
GCH1 NM_000161.2
GFAP NM_002055.4; NM_001131019.2
GJC2 NM_020435.3
GLB1 NM_000404.2
GLDC NM_000170.2
GLRA1 NM_000171.3
GLRB NM_000824.4
GM2A NM_000405.4
GNAO1 NM_020988.2
GNB1 NM_002074.4
GPHN NM_020806.4
GPR88 NM_022049.2
GRIN1 NM_007327.3
HESX1 NM_003865.2
HEXA NM_000520.4
HLCS NM_000411.6
HMGCL NM_000191.2
HPRT1 NM_000194.2
HSD17B10 NM_004493.2
HSD17B4 NM_000414.3
IFIH1 NM_022168.3
ITPA NM_033453.3
ITPR1 NM_002222.5
KANK1 NM_015158.3
KCNC3* NM_004977.2
KCNJ6 NM_002240.4
KDM5C NM_004187.3
KIDINS220 NM_020738.2
KIF1A NM_004321.6
KMT2C* NM_170606.2
L1CAM NM_000425.4
L2HGDH NM_024884.2
LAMA2 NM_000426.3
LIAS NM_006859.3
LMBRD1 NM_018368.3
MAOA NM_000240.3
MCCC1 NM_020166.4
MCCC2 NM_022132.4
MCEE NM_032601.3
MECP2 NM_004992.3; NM_001110792.1
MMAA NM_172250.2
MMAB NM_052845.3
MMACHC NM_015506.2
MMADHC NM_015702.2
MOCS1 NM_001075098.3
MOCS2 NM_176806.3; NM_004531.4
MOCS3 NM_014484.4
MPC1 NM_016098.3
MTHFR* NM_005957.4
MTOR NM_004958.3
MTR NM_000254.2
MTRR NM_002454.2
MTTP NM_000253.3
MUT NM_000255.3
NAA10 NM_003491.3
NAGS NM_153006.2
NBAS NM_015909.3
NGLY1 NM_018297.3
NIPA1 NM_144599.4
NKX2-1 NM_001079668.2
NPC1 NM_000271.4
NPC2 NM_006432.3
NPHP1 NM_000272.3
OTC NM_000531.5
PAFAH1B1 NM_000430.3
PAH NM_000277.1
PAK3 NM_002578.4
PALM NM_002579.2
PANK2 NM_153638.2
PCBD1 NM_000281.3
PCCA NM_000282.3
PCCB NM_000532.4
PCDH12 NM_016580.3
PDE10A NM_001130690.2
PDE2A NM_002599.4
PDHA1 NM_000284.3
PDHB NM_000925.3
PDHX NM_003477.2
PDP1 NM_018444.3
PDSS1 NM_014317.4
PDSS2 NM_020381.3
PEX1 NM_000466.2
PEX10 NM_153818.1
PEX11B NM_003846.2
PEX12 NM_000286.2
PEX13 NM_002618.3
PEX14 NM_004565.2
PEX16 NM_004813.2
PEX19 NM_002857.3
PEX2 NM_000318.2
PEX26 NM_017929.5
PEX3 NM_003630.2
PEX5 NM_001131025.1
PEX6 NM_000287.3
PHGDH NM_006623.3
PIK3CA NM_006218.2
PLA2G6 NM_003560.2
PLP1 NM_000533.4
PLXNA2 NM_025179.3
PNP NM_000270.3
PNPO NM_018129.3
POLG NM_002693.2
POLR3A NM_007055.3
PPT1 NM_000310.3
PROSC NM_007198.3
PSAT1 NM_058179.3
PSPH* NM_004577.3
PTS NM_000317.2
QDPR NM_000320.2
RANBP2 NM_006267.4
RNASEH2A NM_006397.2
RNASEH2B NM_024570.3
RNASEH2C NM_032193.3
RNASET2 NM_003730.4
SAMHD1 NM_015474.3
SCN1A NM_001165963.1
SCN2A NM_021007.2
SCN3A NM_006922.3
SCN8A NM_014191.3; NM_001330260.1
SETD5 NM_001080517.2
SHH NM_000193.2
SIX3 NM_005413.3
SLC16A2 NM_006517.4
SLC17A5 NM_012434.4
SLC18A2 NM_003054.4
SLC19A3 NM_025243.3
SLC1A4 NM_003038.4
SLC25A15 NM_014252.3
SLC25A22 NM_024698.5
SLC2A1 NM_006516.2
SLC30A10 NM_018713.2
SLC6A19 NM_001003841.2
SLC6A3 NM_001044.4
SLC6A5 NM_004211.3
SLC6A8 NM_005629.3
SPAST NM_014946.3
SPG11 NM_025137.3
SPR NM_003124.4
SPTBN2 NM_006946.2
SQSTM1 NM_003900.4
ST3GAL5 NM_003896.3
STXBP1 NM_003165.3
SUCLA2 NM_003850.2
SUCLG1 NM_003849.3
SUOX NM_000456.2
SURF1 NM_003172.3
TBC1D24 NM_001199107.1
TBCK NM_001163435.2
TBL1XR1 NM_024665.4
TCF4 NM_001083962.1
TGIF1 NM_173208.2
TH NM_199292.2
TMEM67 NM_153704.5
TREX1 NM_033629.4
TSEN54 NM_207346.2
TTPA NM_000370.3
TUBA1A NM_006009.3
TUBB4A NM_006087.3
UBE3A NM_130838.1
WDR45 NM_007075.3
WDR62 NM_001083961.1
ZFYVE26 NM_015346.3
ZIC1 NM_003412.3
ZIC2 NM_007129.3

ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced.
ATM: Sequencing analysis for exons 24 includes only cds +/- 10 bp.
CACNA1A: Trinucleotide repeat expansions are not determined on this assay.
DDC: Deletion/duplication analysis is not offered for exons 10-11.
FH: Sequencing analysis for exons 9 includes only cds +/- 10 bp.
GALC: Deletion/duplication analysis is not offered for exon 6.
KCNC3: Sequencing analysis is not offered for exon 4.
KMT2C: Deletion/duplication and sequencing analysis is not offered for exons 15, 19, 21, 24.
MTHFR: The NM_005957.4:c.665C>T (p.Ala222Val) (aka 677C>T) and c.1286A>C (p.Glu429Ala) (aka 1298A>C) variants are not reported in our primary report.
PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5.