Ordering
  • Test code: 55002
  • 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
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Test description

The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement (PMID: 25649058). This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the central white matter, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. Of note, this panel includes genes associated with adult-onset neurodegenerative conditions, as well as, some genes that confer risk for both a childhood-onset, autosomal recessive leukodystrophy, and an autosomal dominant increased risk for cancer (i.e. FH, PTEN, SDHA, and SDHB).

FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3’ UTR at position NM_001079802​.1:c.*4392_*4393.

PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.

PTEN: Deletion/duplication analysis covers the promoter region.

SOX10: Deletion/duplication analysis covers the promoter region.

Order test

Primary panel (446 genes)

AARS AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACO2 ACOX1 ACP5 ACY1 ADAR ADGRG1 ADK ADSL AGA AHDC1 AIFM1 AIMP1 AIMP2 ALDH3A2 ALDH5A1 ALDH6A1 ALG2 AMACR AMPD2 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APOPT1 APP ARCN1 ARHGAP31 ARNT2 ARSA ARX ASNS ASPA ASXL1 ASXL2 ATP13A2 ATP7A ATP7B ATP8A2 ATPAF2 ATRN AUH B3GALNT2 BCAP31 BCL11B BCS1L BMP4 BOLA3 BRAT1 C12orf65 C19orf12 CACNA1A CARS2 CCDC88A CHMP2B CLCN2 CLCN7 CLN6 CLP1 CLPP CNTNAP1 COASY COL4A1 COL4A2 COQ2 COQ7 COQ8A COQ9 COX10 COX14 COX15 COX20 COX6B1 COX7B COX8A CP CPLX1 CPS1 CRAT CSF1R CTBP1 CTC1 CTDP1 CTNS CTSA CYP27A1 CYP2U1 CYP7B1 D2HGDH DAG1 DARS DARS2 DBT DCAF17 DDC DDHD2 DDOST DEAF1 DEGS1 DGUOK DHFR DLL4 DNM1L DNM2 DOCK6 DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL4 ENTPD1 EPG5 EPRS ERCC2 ERCC3 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 FA2H FAM126A FARS2 FARSB FASTKD2 FBXL4 FDX2 FGD4 FGFRL1 FH FIG4 FKRP FKTN FOLR1 FOXC1 FOXG1 FOXRED1 FTL FUCA1 GAA GALC GALT GAN GBE1 GCDH GDAP1 GFAP GFM1 GFM2 GJA1 GJB1 GJC2 GLA GLB1 GLDC GLRX5 GLUL GLYCTK GNAO1 GRM7 GRN GTF2H5 GTPBP2 HEPACAM HEXA HIBCH HIKESHI HK1 HMGCL HSD17B4 HSPD1 HTRA1 IBA57 IDH2 IDS IDUA IER3IP1 IFIH1 ISCA1 ISCA2 ITPA JAM3 KARS KCNJ10 KCNT1 KIAA1161 KIF1A KIF5A L2HGDH LAMA1 LAMA2 LAMB1 LARGE1 LETM1 LIAS LIPT1 LIPT2 LMNB1 LONP1 LRPPRC LYRM7 MAG MAN2B1 MAPT MARS2 MAT1A MCOLN1 MEF2C MGP MLC1 MLYCD MOCS1 MOCS2 MPLKIP MPV17 MPZ MRPL44 MRPS16 MRPS22 MTFMT MTHFR MTR MTRR MUT NADK2 NAXD NAXE NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NGLY1 NKX6-2 NOTCH1 NOTCH3 NPC1 NPC2 NRXN1 NUBPL NUP62 OCRL OSGEP OTC PAFAH1B1 PAH PANK2 PARS2 PC PCDH12 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHGDH PHYH PIGA PINK1 PLA2G6 PLEKHG2 PLP1 PMP22 PNPT1 POLG POLG2 POLR1A POLR1C POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 PPP2R1A PPT1 PRF1 PRKDC PRNP PRPS1 PSAP PSAT1 PSEN1 PTEN PURA PUS3 PYCR2 QARS RARS RBPJ REPS1 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF216 RPIA RPS6KC1 RRM2B SAMHD1 SCO1 SCO2 SCP2 SDHA SDHAF1 SDHB SDHD SEPSECS SERAC1 SH3TC2 SHPK SLC13A3 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A22 SLC25A4 SLC25A42 SLC33A1 SLC35A2 SLC46A1 SLC6A8 SLC6A9 SNIP1 SNORD118 SNRPB SON SOX10 SPART SPAST SPATA5 SPG11 SPG7 SPTAN1 SQSTM1 SSR4 STAMBP STAT1 STN1 STX11 STXBP1 STXBP2 SUCLA2 SUMF1 SURF1 SYNE1 TACO1 TAF2 TARS2 TBC1D24 TBCD TBCK TIMM50 TM4SF20 TMEM106B TMEM126B TMEM165 TMEM70 TMTC3 TPI1 TRAPPC11 TRAPPC9 TREM2 TREX1 TRMT10A TRMT5 TSC1 TSEN54 TTC19 TUBB2A TUBB4A TUFM TWNK TYMP TYROBP UBE2A UFM1 UGT1A1 UNC13D UPB1 VARS2 VCP VPS11 VPS33A WARS2 WDR45 WHSC1 WWOX ZEB2 ZFYVE26 ZNF335

  • AARS-related early infantile epileptic encephalopathy
  • progressive leukoencephalopathy with ovarian failure
  • oxidative phosphorylation deficiency 8
  • GABA-transaminase deficiency
  • Tangier disease
  • X-linked adrenoleukodystrophy
  • ACER3-related leukodystrophy
  • ACO2-related conditions
  • acyl-CoA oxidase deficiency
  • spondyloenchondrodysplasia with immune dysregulation
  • aminoacylase-1 deficiency
  • Aicardi-Goutieres syndrome 6
  • polymicrogyria
  • hypermethioninemia due to adenosine kinase deficiency
  • adenylosuccinate lyase deficiency
  • aspartylglucosaminuria
  • Xia-Gibbs syndrome
  • X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy
  • X-linked combined oxidative phosphorylation deficiency 6
  • hypomyelinating leukodystrophy-3
  • hypomyelinating leukodystrophy-17
  • Sjögren-Larsson syndrome
  • succinic semialdehyde dehydrogenase deficiency
  • methylmalonate semialdehyde dehydrogenase deficiency
  • Congenital disorder of glycosylation, ALG2-CDG (CDG-Ii)
  • alpha-methylacyl-CoA racemase deficiency
  • pontocerebellar hypoplasia, type 9
  • ANK3-related intellectual disability syndrome
  • Pettigrew syndrome
  • hereditary spastic paraplegia 47
  • hereditary spastic paraplegia 51
  • hereditary spastic paraplegia 50
  • hereditary spastic paraplegia 52
  • mitochondrial complex IV deficiency; cavitating leukodystrophy
  • Alzheimer disease type 1
  • cerebral amyloid angiopathy
  • rhizomelic short stature with microcephaly, micrognathia and developmental delay
  • Adams-Oliver syndrome (dominant)
  • Webb-Dattani syndrome
  • metachromatic leukodystrophy
  • West syndrome
  • X-linked lissencephaly with ambiguous genitalia
  • asparagine synthetase deficiency
  • Canavan disease
  • Bohring-Opitz syndrome (C-like syndrome)
  • Shashi-Pena syndrome
  • Menkes disease
  • Wilson disease
  • cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 1
  • ATRN-related hypomyelinating leukodystrophy
  • 3-methylglutaconic aciduria type 1
  • muscular dystrophy-dystroglycanopathy type A11
  • X-linked deafness, dystonia, and cerebral hypomyelination syndrome
  • BCL11B deficiency
  • BCS1L-related conditions
  • BMP4-related microphthalmia
  • multiple mitochondrial dysfunctions syndrome 2
  • neonatal-lethal rigidity and multifocal seizure syndrome
  • progressive external ophthalmoplegia with mitochondrial DNA deletions 3
  • Perrault syndrome 5
  • mitochondrial DNA depletion syndrome 7 (infantile-onset spinocerebellar ataxia)
  • hereditary spastic paraplegia 55
  • combined oxidative phosphorylation deficiency 7
  • mitochondrial membrane protein-associated neurodegeneration
  • hereditary spastic paraplegia 43
  • episodic ataxia type 2
  • familial hemiplegic migraine type 1
  • combined oxidative phosphorylation deficiency 27
  • progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
  • frontotemporal dementia 3
  • amyotrophic lateral sclerosis 17
  • leukoencephalopathy with ataxia
  • osteopetrosis
  • hypopigmentation, organomegaly, with delayed myelination and development
  • neuronal ceroid lipofuscinosis type 6
  • pontocerebellar hypoplasia type 10
  • Perrault syndrome 3
  • lethal congenital contracture syndrome 7
  • congenital hypomyelinating neuropathy 3
  • COASY protein-associated neurodegeneration
  • COL4A1-related conditions
  • porencephaly
  • cerebral small vessel disease 3
  • primary coenzyme Q10 deficiency
  • complex IV deficiency
  • linear skin defects with multiple congenital anomalies
  • aceruloplasminemia
  • CPLX1-related early infantile epileptic encephalopathy
  • carbamoyl phosphate synthetase I deficiency
  • neurodegeneration with brain iron accumulation-8
  • hereditary diffuse leukoencephalopathy with spheroids
  • brain abnormalities, neurodegeneration, and dysosteosclerosis
  • hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
  • cerebroretinal microangiopathy with calcifications and cysts type 1 (Coats plus syndrome)
  • congenital cataracts with facial dysmorphism and neuropathy
  • cystinosis
  • galactosialidosis
  • cerebrotendinous xanthomatosis
  • hereditary spastic paraplegia 56
  • hereditary spastic paraplegia type 5A
  • D-2-hydroxyglutaric aciduria
  • muscular dystrophy-dystroglycanopathy type A9
  • leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity
  • leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • maple syrup urine disease
  • Woodhouse-Sakati syndrome
  • aromatic L-amino acid decarboxylase (AADC) deficiency
  • hereditary spastic paraplegia 54
  • DDOST-congenital disorder of glycosylation (CDG-Ir)
  • neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
  • Vulto-van Silfhout-de Vries syndrome
  • hypomyelinating leukodystrophy 18
  • mitochondrial DNA depletion syndrome 3
  • progressive external ophthalmoplegia with mitochondrial DNA deletions
  • megaloblastic anemia due to dihydrofolate reductase deficiency
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • lethal congenital contracture syndrome 5
  • Adams-Oliver syndrome (recessive)
  • dihydropyrimidinase (DPYS) deficiency
  • intellectual disability disorder 7
  • combined oxidative phosphorylation deficiency 12
  • Waardenburg syndrome type 4A
  • leukoencephalopathy with vanishing white matter
  • spinocerebellar ataxia 34 (erythrokeratodermia with ataxia)
  • ichthyosis, spastic quadriplegia, and intellectual disability
  • hereditary spastic paraplegia 64
  • Vici syndrome
  • hypomyelinating leukodystrophy 15
  • photosensitive trichothiodystrophy
  • xeroderma pigmentosum, group D
  • xeroderma pigmentosum, group B
  • Cockayne syndrome B
  • cerebrooculofacioskeletal syndrome 1
  • Cockayne syndrome A
  • multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II)
  • ethylmalonic encephalopathy
  • fatty acid hydroxylase-associated neurodegeneration/hereditary spastic paraplegia 35
  • hypomyelination and congenital cataracts
  • hereditary spastic paraplegia 77
  • Combined oxidative phosphorylation deficiency 14
  • Rajab interstitial lung disease with brain calcifications
  • mitochondrial DNA depletion syndrome 13, encephalomyopathic type
  • FDX2-related mitochondrial myopathy
  • fumarate hydratase deficiency
  • Yunis-Varon syndrome
  • muscular dystrophy-dystroglycanopathy type A5
  • muscular dystrophy-dystroglycanopathy type B5
  • muscular dystrophy-dystroglycanopathy type C5
  • muscular dystrophy-dystroglycanopathy type A4 (Fukuyama congenital muscular dystrophy)
  • muscular dystrophy-dystroglycanopathy type B4
  • muscular dystrophy-dystroglycanopathy type C4
  • cerebral folate deficiency
  • Axenfeld-Rieger syndrome
  • congenital/atypical Rett syndrome
  • mitochondrial complex I deficiency, nuclear type 19
  • neurodegeneration with neuroferritinopathy
  • hereditary hyperferritinemia-cataract syndrome
  • fucosidosis
  • Pompe
  • Krabbe disease
  • galactosemia
  • giant axonal neuropathy 1
  • glycogen storage disease IV
  • adult polyglucosan body disease
  • glutaric acidemia type I
  • GDAP1 related Charcot-Marie Tooth disease
  • Alexander disease
  • combined oxidative phosphorylation deficiency 1
  • combined oxidative phosphorylation deficiency 39
  • oculodentodigital dysplasia
  • X-linked Charcot-Marie-Tooth disease type 1X
  • hereditary spastic paraplegia 44
  • hypomyelinating leukodystrophy 2 (Pelizaeus-Merzbacher-like disease)
  • Fabry disease
  • GM1 gangliosidosis
  • mucopolysaccharidosis, type IVB
  • glycine encephalopathy
  • childhood-onset spasticity with hyperglycinemia
  • glutamine synthetase deficiency
  • D-glyceric aciduria
  • GNAO1-related neurodevelopmental disorder with involuntary movements
  • GNAO1-related early infantile epileptic encephalopathy
  • GRM7- related leukodystrophy
  • GRN-related frontotemporal dementia
  • neuronal ceroid lipofuscinosis type 11
  • trichothiodystrophy
  • Jaberi-Elahi syndrome
  • megalencephalic leukoencephalopathy with subcortical cysts 2A
  • megalencephalic leukoencephalopathy with subcortical cysts 2B
  • Tay-Sachs disease/(beta-hexosaminidase A deficiency)
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • hypomyelinating leukodystrophy 13
  • HK1-related neurodevelopmental disorder with visual defects and brain anomalies
  • 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency
  • D-bifunctional protein (DBP) deficiency
  • Perrault syndrome
  • hereditary spastic paraplegia 13
  • hypomyelinating leukodystrophy 4/MitCHAP60 disease
  • cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
  • cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2)
  • multiple mitochondrial dysfunctions syndrome 3
  • D-2-hydroxyglutaric aciduria type 2
  • mucopolysaccharidosis type II
  • mucopolysaccharidosis type I
  • microcephaly, epilepsy, and diabetes syndrome
  • Aicardi-Goutieres syndrome
  • multiple mitochondrial dysfunctions syndrome-5
  • multiple mitochondrial dysfunctions syndrome-4
  • inosine triphosphate pyrophosphohydrolase (ITPase) deficiency
  • hemorrhagic destruction of the brain, subependymal calcification, and cataracts
  • syndromic deafness with mitochondrial features
  • SESAME syndrome
  • KCNT1-related early infantile epileptic encephalopathy
  • idiopathic basal ganglia calcification 7
  • complicated spastic paraplegia and intellectual disability 9
  • hereditary spastic paraplegia 10
  • amyotrophic lateral sclerosis 25
  • intractable neonatal myoclonus
  • L-2-hydroxyglutaric aciduria
  • Poretti-Boltshauser syndrome (cerebellar dysplasia with cysts)
  • LAMA2-related muscular dystrophy
  • LAMB1-related lissencephaly
  • muscular dystrophy-dystroglycanopathy type A6/B6
  • LETM1-related mitochondrial encephalomyopathy
  • hyperglycinemia, lactic acidosis, and seizures (pyruvate dehydrogenase lipoic acid synthetase deficiency)
  • lipoyltransferase 1 deficiency
  • neonatal encephalopathy with lactic acidosis and brain anomalies
  • LMNB1-related adult-onset leukodystrophy
  • cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome
  • mitochondrial complex IV deficiency (French Canadian type Leigh syndrome)
  • mitochondrial complex III deficiency, nuclear type 8
  • spastic paraplegia 75
  • alpha-mannosidosis
  • MAPT-related tauopathies
  • combined oxidative phosphorylation deficiency 25
  • spastic ataxia 3
  • hypermethioninemia
  • mucolipidosis type IV
  • MEF2C-related syndromic intellectual disability
  • Keutel syndrome
  • megalencephalic leukoencephalopathy with subcortical cysts 1
  • malonyl-CoA decarboxylase deficiency
  • molybdenum cofactor deficiency (MOCS1)
  • molybdenum cofactor deficiency (MOCS2)
  • non-photosensitive trichothiodystrophy
  • MPV17-related mitochondrial DNA depletion syndrome
  • Congenital hypomyelinating neuropathy 2
  • combined oxidative phosphorylation deficiency 16
  • combined oxidative phosphorylation deficiency 2
  • combined oxidative phosphorylation deficiency 5
  • combined oxidative phosphorylation deficiency 15
  • severe methylenetetrahydrofolate reductase (MTHFR) deficiency
  • MTHFS-related neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
  • cobalamin G deficiency
  • homocystinuria due to cobalamin E deficiency
  • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
  • 2,4-dienoyl-CoA reductase deficiency
  • progressive encephalopathy with brain edema and leukoencephalopathy-2
  • progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1
  • Charcot-Marie-Tooth disease type 4D
  • mitochondrial complex I deficiency, nuclear type 12
  • mitochondrial complex I deficiency, nuclear type 22
  • mitochondrial complex I deficiency, nuclear type 14
  • mitochondrial complex I deficiency, nuclear type 23
  • mitochondrial complex I deficiency, nuclear type 13
  • mitochondrial complex I deficiency, nuclear type 26
  • mitochondrial complex I deficiency, nuclear type 11
  • mitochondrial complex I deficiency, nuclear type 10
  • mitochondrial complex I deficiency, nuclear type 18
  • mitochondrial complex I deficiency, nuclear type 15
  • mitochondrial complex I deficiency, nuclear type 16
  • mitochondrial complex I deficiency, nuclear type 17
  • mitochondrial complex I deficiency, nuclear type 25
  • mitochondrial complex I deficiency, nuclear type 32
  • mitochondrial complex I deficiency, nuclear type 24
  • mitochondrial complex I deficiency, nuclear type 5
  • mitochondrial complex I deficiency, nuclear type 6
  • mitochondrial complex I deficiency, nuclear type 8
  • mitochondrial complex I deficiency, nuclear type 1
  • mitochondrial complex I deficiency, nuclear type 9
  • NDUFS7- related mitochondrial complex I deficiency
  • mitochondrial complex I deficiency, nuclear type 2
  • mitochondrial complex I deficiency, nuclear type 4
  • mitochondrial complex I deficiency, nuclear type 7
  • multiple mitochondrial dysfunctions syndrome 1
  • NGLY1-congenital disorder of glycosylation (CDG-Iv)
  • spastic ataxia 8 with hypomyelinating leukodystrophy
  • mitochondrial complex II deficiency with or without cardiomyopathy
  • cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
  • Niemann-Pick disease type C
  • Pitt-Hopkins-like syndrome
  • mitochondrial complex I deficiency 21
  • infantile striatonigral degeneration
  • Lowe syndrome
  • Galloway-Mowat syndrome
  • ornithine transcarbamylase deficiency
  • PAFAH1B1-related lissencephaly
  • hyperphenylalaninemia/phenylketonuria
  • pantothenate kinase-associated neurodegeneration
  • Alpers syndrome
  • pyruvate carboxylase deficiency
  • diencephalic-mesencephalic junction dysplasia syndrome
  • spinocerebellar ataxia 23
  • isolated mitochondrial complex IV deficiency
  • Zellweger spectrum disorder
  • peroxisome biogenesis disorder 14B
  • rhizomelic chondrodysplasia punctata
  • PGAP1-related intellectual disability
  • phosphoglycerate kinase 1 deficiency
  • phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome
  • Refsum disease
  • PIGA-congenital disorder of glycosylation
  • Parkinson disease 6
  • PLA2G6 associated neurodegeneration/neuroaxonal dystrophy
  • Parkinson disease 14
  • leukodystrophy and acquired microcephaly with or without dystonia
  • hereditary spastic paraplegia 2
  • Pelizaeus-Merzbacher disease
  • Charcot-Marie-Tooth disease type 1A and 1E
  • combined oxidative phosphorylation deficiency 13
  • Alpers-Huttenlocher syndrome
  • mitochondrial DNA depletion syndrome 4B
  • progressive external ophthalmoplegia with mitochondrial deletions 4
  • POLR1A-related neurodegenerative disease
  • hypomyelinating leukodystrophy 11
  • hypomyelinating leukodystrophy 7
  • hypomyelinating leukodystrophy 8 (HLD8), with or without oligodontia and/or hypogonadotropic hypogonadism
  • muscular dystrophy-dystroglycanopathy type A3, B3,C3
  • muscular dystrophy-dystroglycanopathy type A12, C12
  • muscular dystrophy-dystroglycanopathy type A1, B1, C1
  • muscular dystrophy-dystroglycanopathy type A2, B2, C2
  • PPP2R1A- related syndromic intellectual disability
  • neuronal ceroid lipofuscinosis 1
  • familial hemophagocytic lymphohistiocytosis type 2
  • severe combined immunodeficiency due to DNA PKcs deficiency
  • PRNP-related prion disorders
  • PRPS1-related conditions
  • PSAP related conditions
  • phosphoserine aminotransferase (PSAT) deficiency/Neu-Laxova syndrome type 2
  • Alzheimer disease type 3
  • PSEN1-related frontotemporal dementia
  • PTEN-related conditions
  • PURA syndrome
  • PUS3-related intellectual disability syndrome
  • hypomyelinating leukodystrophy 10
  • progressive microcephaly with seizures and cerebral and cerebellar atrophy
  • hypomyelinating leukodystrophy 9
  • Adams-Oliver syndrome 3
  • neurodegeneration with brain iron accumulation 7
  • combined oxidative phosphorylation deficiency 11
  • Aicardi Goutieres syndrome 2, 3, 4
  • cystic leukoencephalopathy, without megalencephaly
  • Gordon Holmes syndrome
  • ribose 5-phosphate isomerase deficiency
  • RPS6KC1-related developmental delay, brain abnormalities, delayed myelination and axial hypotonia
  • mitochondrial DNA depletion syndrome 8A
  • mitochondrial complex IV deficiency (cytochrome-c oxidase deficiency)
  • cardioencephalomyopathy due to mitochondrial complex IV deficiency
  • leukoencephalopathy with dystonia and motor neuropathy
  • infantile leukoencephalopathy
  • mitochondrial complex IV deficiency
  • SDHD-related mitochondrial complex II deficiency
  • pontocerebellar hypoplasia
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome
  • Charcot-Marie-Tooth disease type 4C (CMT4C)
  • Phelan McDermid syndrome
  • sedoheptulokinase deficiency
  • acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK)
  • Allan-Herndon-Dudley syndrome
  • sialic acid storage disorders
  • thiamine metabolism dysfunction syndrome 2 (THMD2), biotin-responsive basal ganglia disease (BBGD)
  • SLC1A2-related early infantile epileptic encephalopathy
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • idiopathic basal ganglia calcification 1
  • combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA)
  • SLC25A12-related early infantile epileptic encephalopathy
  • SLC25A22-related early infantile epileptic encephalopathy
  • mitochondrial DNA depletion syndrome 12A, 12B
  • SLC25A42-related mitochondrial myopathy
  • congenital cataracts, hearing loss, and neurodegeneration
  • congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm)
  • hereditary folate malabsorption
  • creatine transporter deficiency
  • glycine encephalopathy with normal serum glycine
  • SNIP1-related psychomotor impairment, epilepsy, and craniofacial dysmorphism
  • leukoencephalopathy with brain calcifications and cysts (Labrune syndrome)
  • cerebrocostomandibular syndrome
  • Zhu-Tokita-Takenouchi-Kim syndrome
  • peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
  • hereditary spastic paraplegia 4
  • SPATA5- related epilepsy, hearing loss, and intellectual disability syndrome
  • hereditary spastic paraplegia 11
  • juvenile amyotrophic lateral sclerosis 5
  • hereditary spastic paraplegia 20 (Troyer syndrome)
  • hereditary spastic paraplegia 7
  • SPTAN1-related early infantile epileptic encephalopathy
  • neurodegeneration with ataxia, dystonia and gaze palsy
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • SSR4-Congenital Disorder of Glycosylation (CDG type 1y)
  • microcephaly-capillary malformation syndrome
  • STAT1-related conditions
  • cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
  • familial hemophagocytic lymphohistiocytosis type 4
  • STXBP1-related early infantile onset epileptic encephalopathy
  • familial hemophagocytic lymphohistiocytosis type 5
  • succinate-CoA ligase deficiency, a mitochondrial DNA depletion syndrome
  • multiple sulfatase deficiency
  • Leigh syndrome due to mitochondrial complex IV deficiency
  • spinocerebellar ataxia type 8
  • TAF2-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia
  • combined oxidative phosphorylation deficiency 21
  • TBC1D24-related early infantile epileptic encephalopathy, familial infantile myoclonic epilepsy, progressive myoclonic epilepsy
  • TBCD-related progressive early-onset encephalopathy with brain atrophy and thin corpus callosum
  • TBCK-related infantile hypotonia with intellectual disability and characteristic facies
  • 3-methylglutaconic aciduria
  • TM4SF20-related delay in early speech acquisition associated with leukoencephalopathy and autism spectrum disorder
  • hypomyelinating leukodystrophy 16
  • congenital disorder of glycosylation (CDG-IIk)
  • ATP synthase deficiency
  • TMTC3-related lissencephaly
  • triosephosphate isomerase deficiency
  • limb-girdle muscular dystrophy type 2S
  • TRAPPC9-related intellectual disability
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • Aicardi-Goutieres syndrome 1
  • retinal vasculopathy with cerebral leukodystrophy
  • microcephaly, short stature, and impaired glucose metabolism
  • combined oxidative phosphorylation deficiency 26
  • tuberous sclerosis complex
  • TSEN54-related pontocerebellar hypoplasia
  • mitochondrial complex III deficiency, nuclear type 2
  • TUBB2A-related cortical malformation syndrome
  • hypomyelinating leukodystrophy 6
  • combined oxidative phosphorylation deficiency 4
  • mitochondrial DNA depletion syndrome 1
  • Nasu-Hakola disease
  • Nascimento type of X-linked syndromic intellectual disability
  • hypomyelinating leukodystrophy-14
  • UGT1A1-related conditions
  • familial hemophagocytic lymphohistiocytosis type 3 (FHL3)
  • beta-ureidopropionase deficiency
  • pseudo-TORCH syndrome
  • combined oxidative phosphorylation deficiency 20 (COXPD20)
  • inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
  • amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
  • hypomyelinating leukodystrophy-12
  • mucopolysaccharidosis-plus syndrome (MPSPS)
  • WARS2-related leukoencephalopathy
  • beta-propeller protein-associated neurodegeneration
  • Wolf-Hirschhorn-like syndrome
  • spinocerebellar ataxia 12
  • Mowat-Wilson syndrome
  • hereditary spastic paraplegia 15
  • ZNF335-related primary microcephaly

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

Leukodystrophies, genetic leukoencephalopathies, and other heritable conditions affecting the white matter follow a variety of inheritance patterns including autosomal recessive, autosomal dominant, and X-linked. Conditions associated with mitochondrial inheritance and repeat expansions are not evaluated by this panel.

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
AARS NM_001605.2
AARS2 NM_020745.3
ABAT NM_020686.5
ABCA1 NM_005502.3
ABCD1 NM_000033.3
ACADS NM_000017.3
ACER3 NM_018367.6
ACO2 NM_001098.2
ACOX1 NM_004035.6
ACP5 NM_001111035.2
ACY1 NM_000666.2
ADAR NM_001111.4
ADGRG1 NM_005682.6
ADK NM_001123.3
ADSL NM_000026.2
AGA NM_000027.3
AHDC1 NM_001029882.3
AIFM1 NM_004208.3
AIMP1 NM_004757.3
AIMP2 NM_006303.3
ALDH3A2 NM_000382.2
ALDH5A1 NM_001080.3
ALDH6A1 NM_005589.3
ALG2 NM_033087.3
AMACR NM_014324.5
AMPD2 NM_001257360.1
ANK3 NM_020987.4
AP1S2 NM_003916.4
AP4B1 NM_006594.3
AP4E1 NM_007347.4
AP4M1 NM_004722.3
AP4S1 NM_007077.4
APOPT1 NM_032374.4
APP NM_000484.3
ARCN1 NM_001655.4
ARHGAP31 NM_020754.3
ARNT2 NM_014862.3
ARSA NM_000487.5
ARX* NM_139058.2
ASNS NM_133436.3
ASPA NM_000049.2
ASXL1 NM_015338.5
ASXL2 NM_018263.4
ATP13A2 NM_022089.3
ATP7A NM_000052.6
ATP7B NM_000053.3
ATP8A2 NM_016529.5
ATPAF2 NM_145691.3
ATRN NM_139321.2
AUH NM_001698.2
B3GALNT2 NM_152490.4
BCAP31 NM_001139441.1
BCL11B NM_138576.3
BCS1L NM_004328.4
BMP4 NM_001202.3
BOLA3 NM_212552.2
BRAT1 NM_152743.3
C12orf65 NM_152269.4
C19orf12* NM_001031726.3
CACNA1A* NM_001127221.1
CARS2 NM_024537.3
CCDC88A NM_001135597.1
CHMP2B NM_014043.3
CLCN2 NM_004366.5
CLCN7 NM_001287.5
CLN6 NM_017882.2
CLP1 NM_006831.2
CLPP NM_006012.2
CNTNAP1 NM_003632.2
COASY NM_025233.6
COL4A1 NM_001845.5
COL4A2* NM_001846.3
COQ2 NM_015697.7
COQ7 NM_016138.4
COQ8A NM_020247.4
COQ9 NM_020312.3
COX10* NM_001303.3
COX14 NM_032901.3
COX15 NM_004376.6
COX20 NM_198076.5
COX6B1 NM_001863.4
COX7B NM_001866.2
COX8A NM_004074.2
CP NM_000096.3
CPLX1 NM_006651.3
CPS1 NM_001875.4
CRAT NM_000755.3
CSF1R NM_005211.3
CTBP1 NM_001328.2
CTC1 NM_025099.5
CTDP1* NM_004715.4
CTNS NM_004937.2
CTSA NM_000308.3
CYP27A1 NM_000784.3
CYP2U1 NM_183075.2
CYP7B1 NM_004820.3
D2HGDH NM_152783.4
DAG1 NM_004393.5
DARS NM_001349.3
DARS2 NM_018122.4
DBT NM_001918.3
DCAF17 NM_025000.3
DDC* NM_000790.3
DDHD2 NM_015214.2
DDOST NM_005216.4
DEAF1 NM_021008.3
DEGS1 NM_003676.3
DGUOK NM_080916.2
DHFR NM_000791.3
DLL4 NM_019074.3
DNM1L NM_012062.4
DNM2 NM_001005360.2
DOCK6 NM_020812.3
DPYS NM_001385.2
DYRK1A NM_001396.3
EARS2 NM_001083614.1
EDNRB NM_000115.3
EGR2 NM_000399.3
EIF2B1 NM_001414.3
EIF2B2 NM_014239.3
EIF2B3 NM_020365.4
EIF2B4 NM_015636.3
EIF2B5 NM_003907.2
ELOVL4 NM_022726.3
ENTPD1 NM_001776.5
EPG5 NM_020964.2
EPRS NM_004446.2
ERCC2 NM_000400.3
ERCC3 NM_000122.1
ERCC6 NM_000124.3
ERCC8 NM_000082.3
ETFA NM_000126.3
ETFB NM_001985.2
ETFDH NM_004453.3
ETHE1 NM_014297.3
FA2H NM_024306.4
FAM126A NM_032581.3
FARS2 NM_006567.3
FARSB NM_005687.4
FASTKD2 NM_014929.3
FBXL4 NM_012160.4
FDX2 NM_001031734.3
FGD4 NM_139241.3
FGFRL1 NM_001004356.2
FH* NM_000143.3
FIG4 NM_014845.5
FKRP NM_024301.4
FKTN* NM_001079802.1
FOLR1 NM_016725.2
FOXC1 NM_001453.2
FOXG1 NM_005249.4
FOXRED1 NM_017547.3
FTL NM_000146.3
FUCA1 NM_000147.4
GAA* NM_000152.3
GALC* NM_000153.3
GALT* NM_000155.3
GAN NM_022041.3
GBE1 NM_000158.3
GCDH NM_000159.3
GDAP1 NM_018972.2
GFAP NM_002055.4; NM_001131019.2
GFM1 NM_024996.5
GFM2 NM_032380.4
GJA1 NM_000165.4
GJB1 NM_000166.5
GJC2* NM_020435.3
GLA* NM_000169.2
GLB1 NM_000404.2
GLDC NM_000170.2
GLRX5 NM_016417.2
GLUL NM_002065.6
GLYCTK NM_145262.3
GNAO1 NM_020988.2
GRM7 NM_000844.3
GRN NM_002087.3
GTF2H5 NM_207118.2
GTPBP2 NM_019096.4
HEPACAM NM_152722.4
HEXA NM_000520.4
HIBCH NM_014362.3
HIKESHI NM_016401.3
HK1 NM_000188.2
HMGCL NM_000191.2
HSD17B4 NM_000414.3
HSPD1 NM_002156.4
HTRA1 NM_002775.4
IBA57 NM_001010867.3
IDH2 NM_002168.3
IDS* NM_000202.6
IDUA NM_000203.4
IER3IP1 NM_016097.4
IFIH1 NM_022168.3
ISCA1 NM_030940.3
ISCA2 NM_194279.3
ITPA NM_033453.3
JAM3 NM_032801.4
KARS NM_001130089.1
KCNJ10 NM_002241.4
KCNT1 NM_020822.2
KIAA1161 NM_020702.4
KIF1A NM_004321.6
KIF5A NM_004984.2
L2HGDH NM_024884.2
LAMA1 NM_005559.3
LAMA2 NM_000426.3
LAMB1 NM_002291.2
LARGE1 NM_004737.4
LETM1 NM_012318.2
LIAS NM_006859.3
LIPT1 NM_145199.2
LIPT2 NM_001144869.2
LMNB1 NM_005573.3
LONP1 NM_004793.3
LRPPRC NM_133259.3
LYRM7 NM_181705.3
MAG NM_002361.3
MAN2B1 NM_000528.3
MAPT NM_005910.5
MARS2 NM_138395.3
MAT1A NM_000429.2
MCOLN1 NM_020533.2
MEF2C NM_002397.4
MGP NM_000900.3
MLC1 NM_015166.3
MLYCD NM_012213.2
MOCS1 NM_001075098.3
MOCS2 NM_176806.3; NM_004531.4
MPLKIP NM_138701.3
MPV17 NM_002437.4
MPZ NM_000530.6
MRPL44 NM_022915.3
MRPS16 NM_016065.3
MRPS22 NM_020191.2
MTFMT NM_139242.3
MTHFR* NM_005957.4
MTR NM_000254.2
MTRR* NM_002454.2
MUT NM_000255.3
NADK2 NM_001085411.2
NAXD NM_018210.3
NAXE NM_144772.2
NDRG1 NM_006096.3
NDUFA1 NM_004541.3
NDUFA10 NM_004544.3
NDUFA11 NM_175614.4
NDUFA12 NM_018838.4
NDUFA2 NM_002488.4
NDUFA9 NM_005002.4
NDUFAF1 NM_016013.3
NDUFAF2 NM_174889.4
NDUFAF3 NM_199069.1
NDUFAF4 NM_014165.3
NDUFAF5 NM_024120.4
NDUFAF6 NM_152416.3
NDUFB3 NM_002491.2
NDUFB8 NM_005004.3
NDUFB9 NM_005005.2
NDUFS1 NM_005006.6
NDUFS2 NM_004550.4
NDUFS3 NM_004551.2
NDUFS4 NM_002495.3
NDUFS6 NM_004553.4
NDUFS7 NM_024407.4
NDUFS8 NM_002496.3
NDUFV1 NM_007103.3
NDUFV2 NM_021074.4
NFU1 NM_001002755.2
NGLY1 NM_018297.3
NKX6-2 NM_177400.2
NOTCH1 NM_017617.3
NOTCH3 NM_000435.2
NPC1 NM_000271.4
NPC2 NM_006432.3
NRXN1 NM_001135659.1
NUBPL NM_025152.2
NUP62 NM_153719.3
OCRL NM_000276.3
OSGEP NM_017807.3
OTC* NM_000531.5
PAFAH1B1 NM_000430.3
PAH NM_000277.1
PANK2 NM_153638.2
PARS2 NM_152268.3
PC* NM_000920.3
PCDH12 NM_016580.3
PDYN NM_024411.4
PET100 NM_001171155.1
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
PEX7 NM_000288.3
PGAP1 NM_024989.3
PGK1 NM_000291.3
PHGDH NM_006623.3
PHYH NM_006214.3
PIGA NM_002641.3
PINK1 NM_032409.2
PLA2G6 NM_003560.2
PLEKHG2 NM_022835.2
PLP1 NM_000533.4
PMP22 NM_000304.3
PNPT1 NM_033109.4
POLG NM_002693.2
POLG2 NM_007215.3
POLR1A NM_015425.4
POLR1C NM_203290.3
POLR3A NM_007055.3
POLR3B NM_018082.5
POMGNT1 NM_017739.3
POMK NM_032237.4
POMT1 NM_007171.3
POMT2 NM_013382.5
PPP2R1A NM_014225.5
PPT1* NM_000310.3
PRF1 NM_001083116.1
PRKDC NM_006904.6
PRNP* NM_000311.3
PRPS1 NM_002764.3
PSAP NM_002778.3
PSAT1 NM_058179.3
PSEN1 NM_000021.3
PTEN* NM_000314.4
PURA NM_005859.4
PUS3 NM_031307.3
PYCR2 NM_013328.3
QARS NM_005051.2
RARS* NM_002887.3
RBPJ NM_005349.3
REPS1 NM_001286611.1
RMND1 NM_017909.3
RNASEH2A NM_006397.2
RNASEH2B NM_024570.3
RNASEH2C NM_032193.3
RNASET2 NM_003730.4
RNF216* NM_207111.3
RPIA NM_144563.2
RPS6KC1 NM_012424.4
RRM2B NM_015713.4
SAMHD1 NM_015474.3
SCO1 NM_004589.3
SCO2 NM_005138.2
SCP2 NM_002979.4
SDHA* NM_004168.3
SDHAF1 NM_001042631.2
SDHB NM_003000.2
SDHD NM_003002.3
SEPSECS NM_016955.3
SERAC1 NM_032861.3
SH3TC2 NM_024577.3
SHPK NM_013276.2
SLC13A3 NM_022829.5
SLC16A2 NM_006517.4
SLC17A5 NM_012434.4
SLC19A3 NM_025243.3
SLC1A2 NM_004171.3
SLC1A4 NM_003038.4
SLC20A2 NM_006749.4
SLC25A1 NM_005984.4
SLC25A12 NM_003705.4
SLC25A22 NM_024698.5
SLC25A4 NM_001151.3
SLC25A42 NM_178526.4
SLC33A1 NM_004733.3
SLC35A2 NM_001042498.2
SLC46A1 NM_080669.5
SLC6A8 NM_005629.3
SLC6A9 NM_201649.3
SNIP1 NM_024700.3
SNORD118 NR_033294.1
SNRPB NM_198216.1
SON NM_032195.2
SOX10 NM_006941.3
SPART NM_015087.4
SPAST NM_014946.3
SPATA5 NM_145207.2
SPG11 NM_025137.3
SPG7 NM_003119.3
SPTAN1 NM_001130438.2
SQSTM1 NM_003900.4
SSR4 NM_001204526.1
STAMBP NM_006463.4
STAT1 NM_007315.3
STN1 NM_024928.4
STX11 NM_003764.3
STXBP1 NM_003165.3
STXBP2 NM_006949.3
SUCLA2 NM_003850.2
SUMF1 NM_182760.3
SURF1 NM_003172.3
SYNE1 NM_033071.3
TACO1 NM_016360.3
TAF2* NM_003184.3
TARS2 NM_025150.4
TBC1D24 NM_001199107.1
TBCD NM_005993.4
TBCK NM_001163435.2
TIMM50 NM_001001563.3
TM4SF20* NM_024795.4
TMEM106B NM_018374.3
TMEM126B NM_018480.4
TMEM165 NM_018475.4
TMEM70 NM_017866.5
TMTC3 NM_181783.3
TPI1 NM_000365.5
TRAPPC11 NM_021942.5
TRAPPC9 NM_031466.7
TREM2 NM_018965.3; NM_001271821.1
TREX1 NM_033629.4
TRMT10A NM_152292.4
TRMT5 NM_020810.3
TSC1* NM_000368.4
TSEN54 NM_207346.2
TTC19 NM_017775.3
TUBB2A* NM_001069.2
TUBB4A NM_006087.3
TUFM NM_003321.4
TWNK NM_021830.4
TYMP NM_001953.4
TYROBP NM_003332.3
UBE2A NM_003336.3
UFM1 NM_001286704.1
UGT1A1 NM_000463.2
UNC13D NM_199242.2
UPB1 NM_016327.2
VARS2 NM_001167734.1
VCP NM_007126.3
VPS11 NM_021729.5
VPS33A NM_022916.4
WARS2 NM_015836.3
WDR45 NM_007075.3
WHSC1 NM_133330.2
WWOX NM_016373.3
ZEB2 NM_014795.3
ZFYVE26 NM_015346.3
ZNF335 NM_022095.3

ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced.
C19orf12: Deletion/duplication analysis is not offered for exon 1.
CACNA1A: Trinucleotide repeat expansions are not determined on this assay.
COL4A2: Deletion/duplication and sequencing analysis is not offered for exon 21.
COX10: Deletion/duplication and sequencing analysis is not offered for exon 6.
CTDP1: c.863+389C>T variant only.
DDC: Deletion/duplication analysis is not offered for exons 10-11.
FH: Sequencing analysis for exon 9 is limited to cds +/-10 bp.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease. Deletion/duplication analysis is not offered for exon 6.
GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.
GJC2: Analysis includes the promoter variants NM_020435.3:c.-167A>G and NM_020435.3:c.-170A>G.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
IDS: Detection of complex rearrangements not offered (PMID: 7633410, 20301451).
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.
MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.
PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.
PRNP analysis does not include the octapeptide repeat region. PRNP codon 129 status is not included in reports (see Clinical Sensitivity section of prion disease test page for more information). Octapeptide repeat numbers are not determined.
PTEN: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 8 includes only cds +/- 10 bp.
RARS: Deletion/duplication analysis is not offered for exon 14.
RNF216: Deletion/duplication and sequencing analysis is not offered for exons 2, 6.
SDHA: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exon 14. Sequencing analysis for exons 6-8 includes only cds +/- 10 bp.
TAF2: Sequencing analysis is not offered for exon 2.
TM4SF20: Deletion/duplication analysis is not offered for exon 1.
TSC1: Sequencing analysis for exons 21 includes only cds +/- 10 bp.
TUBB2A: Deletion/duplication and sequencing analysis is not offered for exon 2.