Leukodystrophy and Leukoencephalopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5495 AARS2 81479,81479 Order Options and Pricing
ABCD1 81405,81479
ACOX1 81479,81479
ACP5 81479,81479
ADAR 81479,81479
ADGRG1 81479,81479
ADSL 81479,81479
AGA 81479,81479
AIMP1 81479,81479
AIMP2 81479,81479
ALDH3A2 81479,81479
ALDH5A1 81479,81479
ARSA 81405,81479
ASPA 81479,81479
ATP7A 81479,81479
ATP7B 81479,81479
BCAP31 81479,81479
BOLA3 81479,81479
BPTF 81479,81479
CBS 81406,81479
CLCN2 81479,81479
CLPP 81479,81479
CNTNAP1 81479,81479
COA8 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COLGALT1 81479,81479
COQ2 81479,81479
COQ9 81479,81479
COX10 81405,81479
COX15 81405,81479
CPS1 81479,81479
CSF1R 81479,81479
CTC1 81479,81479
CTSA 81479,81479
CYP27A1 81479,81479
CYP2U1 81479,81479
CYP7B1 81479,81479
D2HGDH 81479,81479
DAG1 81479,81479
DARS1 81479,81479
DARS2 81479,81479
DCAF17 81479,81479
DDHD2 81479,81479
DEGS1 81479,81479
DGUOK 81405,81479
DNM1L 81479,81479
EARS2 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
EPRS1 81479,81479
ERCC6 81479,81479
ERCC8 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
FA2H 81479,81479
FAM126A 81479,81479
FARS2 81479,81479
FBXL4 81479,81479
FDX2 81479,81479
FH 81479,81479
FOLR1 81479,81479
FOXRED1 81479,81479
FUCA1 81479,81479
GALC 81479,81479
GALT 81406,81479
GAN 81479,81479
GBE1 81479,81479
GCDH 81406,81479
GFAP 81405,81479
GFM1 81479,81479
GJA1 81479,81479
GJB1 81403,81479
GJC2 81479,81479
GLA 81405,81479
GLB1 81479,81479
HEPACAM 81479,81479
HEXA 81479,81479
HIKESHI 81479,81479
HMGCL 81479,81479
HSD17B4 81479,81479
HSPD1 81479,81479
HTRA1 81405,81479
IBA57 81479,81479
IDH2 81403,81479
IDS 81405,81479
IFIH1 81479,81479
ISCA2 81479,81479
JAM3 81479,81479
KARS1 81479,81479
L2HGDH 81479,81479
LAMA2 81408,81479
LMNB1 81479,81479
LYRM7 81479,81479
MARS2 81479,81479
MCOLN1 81479,81479
MLC1 81479,81479
MOCS1 81479,81479
MRPS22 81479,81479
MTFMT 81479,81479
MTHFR 81479,81479
MTHFS 81479,81479
NAXD 81479,81479
NAXE 81479,81479
NDUFA1 81404,81479
NDUFA10 81479,81479
NDUFA12 81479,81479
NDUFA2 81479,81479
NDUFA9 81479,81479
NDUFAF2 81404,81479
NDUFAF4 81479,81479
NDUFAF5 81479,81479
NDUFAF6 81479,81479
NDUFB8 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NDUFS3 81479,81479
NDUFS4 81404,81479
NDUFS7 81405,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NFU1 81479,81479
NKX6-2 81479,81479
NOTCH3 81406,81479
NPC1 81406,81479
NPC2 81404,81479
NUBPL 81479,81479
OCLN 81479,81479
OCRL 81479,81479
OSGEP 81479,81479
OTC 81405,81479
PAH 81406,81479
PC 81406,81479
PDHA1 81406,81405
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PLEKHG2 81479,81479
PLP1 81405,81404
POLG 81406,81479
POLR1A 81479,81479
POLR1C 81479,81479
POLR3A 81479,81479
POLR3B 81479,81479
PPT1 81479,81479
PSAP 81479,81479
PYCR2 81479,81479
RARS1 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNASET2 81479,81479
RNF216 81479,81479
RRM2B 81405,81479
SAMHD1 81479,81479
SCP2 81479,81479
SDHAF1 81479,81479
SDHB 81405,81479
SLC16A2 81405,81404
SLC17A5 81479,81479
SLC19A3 81479,81479
SLC25A1 81479,81479
SLC25A12 81479,81479
SLC25A4 81404,81479
SLC6A9 81479,81479
SOX10 81479,81479
SPART 81479,81479
SPG11 81407,81479
SPG7 81406,81405
STN1 81479,81479
SUCLA2 81479,81479
SUMF1 81479,81479
SURF1 81405,81479
TMEM106B 81479,81479
TREM2 81479,81479
TREX1 81479,81479
TUBB4A 81479,81479
TUFM 81479,81479
TWNK 81404,81479
TYMP 81405,81479
TYROBP 81479,81479
UFM1 81479,81479
VPS11 81479,81479
WARS2 81479,81479
ZFYVE26 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5495Genes x (199)81479 81403(x2), 81404(x8), 81405(x22), 81406(x14), 81407(x1), 81408(x2), 81479(x349) $1240 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Leukodystrophies are a group of inherited heterogeneous disorders affecting the white matter of the central nervous system with or without peripheral nervous system involvement. These disorders are often characterized by glial cell or myelin sheath abnormalities. Neuropathology often reveals involvement of oligodendrocytes, astrocytes, and other non-neuronal cell types. Of note, the term leukoencephalopathy is a more neutral term for any brain white matter disorder including genetic or acquired causes. Leukodystrophies are present with highly variable phenotypes and disease onset at all ages due to different etiologies and pathogenic mechanisms. When white matter tracts are affected, it almost universally leads to motor impairment. The major features include hypotonia in early childhood, which progresses to spasticity over time. Motor dysfunction may involve swallowing, chewing, or respiration in certain cases. Other features include extrapyramidal movement dysfunction (for example, dystonia or dyskinesias), ataxia, seizures, and delay in cognitive development or cognitive impairment (Vanderver et al. 2015. PubMed ID: 25649058; Kevelam et al. 2016. PubMed ID: 27564080). MRI studies are extremely useful in the diagnosis of patients with leukoencephalopathies. MRI facilitates the diagnosis of specific etiologic entities (Schiffmann and van der Knaap. 2009. PubMed ID: 19237705).

Genetics

This panel covers many well-characterized genes involved in classical leukodystrophies and other genetic leukoencephalopathies that have significant white matter involvement, such as certain inborn errors of metabolism, disorders in lysosomes, peroxisomes, mitochondria, vascular disorders, and diseases with primary involvement of neurons in the cerebral cortex or other gray matter structures (Vanderver et al. 2015. PubMed ID: 25649058).

The genetic etiology of leukodystrophy and leukoencephalopathy is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms. Leukodystrophy and leukoencephalopathy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner or with complex inheritance.

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Clinical Sensitivity - Sequencing with CNV PGxome

This panel includes genes causative for leukodystrophy and leukoencephalopathy. The sensitivity is variable depending on different disorders. For example, this panel can identify pathogenic variants in more than 90% of individuals who have leukoencephalopathy with vanishing white matter and characteristic MRI findings (Schiffmann et al. 2010. PubMed ID: 20301435).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.4% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This sequencing panel is recommended for patients suspected to have leukodystrophies and leukoencephalopathies.

Genes

Official Gene Symbol OMIM ID
AARS2 612035
ABCD1 300371
ACOX1 609751
ACP5 171640
ADAR 146920
ADGRG1 604110
ADSL 608222
AGA 613228
AIMP1 603605
AIMP2 600859
ALDH3A2 609523
ALDH5A1 610045
ARSA 607574
ASPA 608034
ATP7A 300011
ATP7B 606882
BCAP31 300398
BOLA3 613183
BPTF 601819
CBS 613381
CLCN2 600570
CLPP 601119
CNTNAP1 602346
COA8 616003
COL4A1 120130
COL4A2 120090
COLGALT1 617531
COQ2 609825
COQ9 612837
COX10 602125
COX15 603646
CPS1 608307
CSF1R 164770
CTC1 613129
CTSA 613111
CYP27A1 606530
CYP2U1 610670
CYP7B1 603711
D2HGDH 609186
DAG1 128239
DARS1 603084
DARS2 610956
DCAF17 612515
DDHD2 615003
DEGS1 615843
DGUOK 601465
DNM1L 603850
EARS2 612799
EIF2B1 606686
EIF2B2 606454
EIF2B3 606273
EIF2B4 606687
EIF2B5 603945
EPRS1 138295
ERCC6 609413
ERCC8 609412
ETFA 608053
ETFB 130410
ETFDH 231675
FA2H 611026
FAM126A 610531
FARS2 611592
FBXL4 605654
FDX2 614585
FH 136850
FOLR1 136430
FOXRED1 613622
FUCA1 612280
GALC 606890
GALT 606999
GAN 605379
GBE1 607839
GCDH 608801
GFAP 137780
GFM1 606639
GJA1 121014
GJB1 304040
GJC2 608803
GLA 300644
GLB1 611458
HEPACAM 611642
HEXA 606869
HIKESHI 614908
HMGCL 613898
HSD17B4 601860
HSPD1 118190
HTRA1 602194
IBA57 615316
IDH2 147650
IDS 300823
IFIH1 606951
ISCA2 615317
JAM3 606871
KARS1 601421
L2HGDH 609584
LAMA2 156225
LMNB1 150340
LYRM7 615831
MARS2 609728
MCOLN1 605248
MLC1 605908
MOCS1 603707
MRPS22 605810
MTFMT 611766
MTHFR 607093
MTHFS 604197
NAXD 615910
NAXE 608862
NDUFA1 300078
NDUFA10 603835
NDUFA12 614530
NDUFA2 602137
NDUFA9 603834
NDUFAF2 609653
NDUFAF4 611776
NDUFAF5 612360
NDUFAF6 612392
NDUFB8 602140
NDUFS1 157655
NDUFS2 602985
NDUFS3 603846
NDUFS4 602694
NDUFS7 601825
NDUFS8 602141
NDUFV1 161015
NFU1 608100
NKX6-2 605955
NOTCH3 600276
NPC1 607623
NPC2 601015
NUBPL 613621
OCLN 602876
OCRL 300535
OSGEP 610107
OTC 300461
PAH 612349
PC 608786
PDHA1 300502
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PLEKHG2 611893
PLP1 300401
POLG 174763
POLR1A 616404
POLR1C 610060
POLR3A 614258
POLR3B 614366
PPT1 600722
PSAP 176801
PYCR2 616406
RARS1 107820
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNASET2 612944
RNF216 609948
RRM2B 604712
SAMHD1 606754
SCP2 184755
SDHAF1 612848
SDHB 185470
SLC16A2 300095
SLC17A5 604322
SLC19A3 606152
SLC25A1 190315
SLC25A12 603667
SLC25A4 103220
SLC6A9 601019
SOX10 602229
SPART 607111
SPG11 610844
SPG7 602783
STN1 613128
SUCLA2 603921
SUMF1 607939
SURF1 185620
TMEM106B 613413
TREM2 605086
TREX1 606609
TUBB4A 602662
TUFM 602389
TWNK 606075
TYMP 131222
TYROBP 604142
UFM1 610553
VPS11 608549
WARS2 604733
ZFYVE26 612012
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency AR 246450
Acrofacial dysostosis, Cincinnati type AD 616462
Adenylosuccinate Lyase Deficiency AR 103050
Adrenoleukodystrophy XL 300100
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Aicardi-Goutieres Syndrome 7 AD 615846
Alexander Disease AD 203450
Allan-Herndon-Dudley Syndrome XL 300523
Aspartylglycosaminuria AR 208400
Basal Ganglia Disease, Biotin-Responsive AR 607483
Brain small vessel disease 3 AR 618360
CARASIL Syndrome AR 600142
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy AD 125310
Cerebral Folate Deficiency AR 613068
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebroretinal microangiopathy with calcifications and cysts 2 AR 617341
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 XL 302800
Cockayne Syndrome Type I AR 216400
Cockayne Syndrome, Type B AR 133540
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Combined D-2- and L-2-HydroxyGlutaric Aciduria AR 615182
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 4 AR 610678
Combined Oxidative Phosphorylation Deficiency 5 AR 611719
Congenital Hyperammonemia, Type I AR 237300
D-2-Alpha Hydroxyglutaric Aciduria AR 600721
D-2-Hydroxyglutaric Aciduria 2 IC 613657
Deafness, Dystonia, and Cerebral Hypomyelination XL 300475
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy AR 617186
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 AR 618321
Epileptic Encephalopathy, Early Infantile, 39 AR 612949
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant AD 169500
Fabry's Disease XL 301500
Fucosidosis AR 230000
Fumarase Deficiency AR 606812
Galactosemia AR 230400
Galactosialidosis AR 256540
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Galloway-Mowat Syndrome 3 AR 617729
Ganglioside Sialidase Deficiency AR 252650
Giant Axonal Neuropathy AR 256850
Glutaric Aciduria, Type 1 AR 231670
Glutaric Aciduria, Type 2 AR 231680
Glycine encephalopathy with normal serum glycine AR 617301
Glycogen Storage Disease Type IV AR 232500
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Homocystinuria Due To Cbs Deficiency AR 236200
Homocystinuria due to MTHFR Deficiency AR 236250
Hypomyelinating neuropathy, congenital, 3 AR 618186
Hypomyelination And Congenital Cataract AR 610532
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity AR 615281
Infantile Gm1 Gangliosidosis AR 230500
L-2-Hydroxyglutaric Aciduria AR 236792
Leigh Syndrome AR 256000
Lethal congenital contracture syndrome 7 AR 616286
Leukodystrophy and acquired microcephaly with or without dystonia AR 616763
Leukodystrophy, Hypomyelinating 3 AR 260600
Leukodystrophy, hypomyelinating, 10 AR 616420
Leukodystrophy, Hypomyelinating, 11 AR 616494
Leukodystrophy, hypomyelinating, 12 AR 616683
Leukodystrophy, hypomyelinating, 13 AR 616881
Leukodystrophy, hypomyelinating, 14 AR 617899
Leukodystrophy, hypomyelinating, 15 AR 617951
Leukodystrophy, hypomyelinating, 16 AD 617964
Leukodystrophy, hypomyelinating, 17 AR 618006
Leukodystrophy, hypomyelinating, 18 AR 618404
Leukodystrophy, Hypomyelinating, 2 AR 608804
Leukodystrophy, Hypomyelinating, 4 AR 612233
Leukodystrophy, Hypomyelinating, 6 AD 612438
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism AR 607694
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism AR 614381
Leukodystrophy, Hypomyelinating, 9 AR 616140
Leukoencephalopathy with Ataxia AR 615651
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation AR 611105
Leukoencephalopathy with Dystonia and Motor Neuropathy AR 613724
Leukoencephalopathy With Vanishing White Matter AR 603896
Leukoencephalopathy, Cystic, Without Megalencephaly AR 612951
Leukoencephalopathy, Diffuse Hereditary, with Spheroids AD 221820
Leukoencephalopathy, Progressive, with Ovarian Failure AR 615889
Lowe Syndrome XL 309000
Megalencephalic Leukoencephalopathy With Subcortical Cysts AR 604004
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A AR 613925
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation AD 613926
Menkes Kinky-Hair Syndrome XL 309400
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Metachromatic Leukodystrophy AR 250100
Mitochondrial Complex I Deficiency AR 252010
Mitochondrial complex I deficiency, nuclear type 10 AR 618233
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mitochondrial complex I deficiency, nuclear type 13 AR 618235
Mitochondrial complex I deficiency, nuclear type 15 AR 618237
Mitochondrial complex I deficiency, nuclear type 16 AR 618238
Mitochondrial complex I deficiency, nuclear type 17 AR 618239
Mitochondrial complex I deficiency, nuclear type 19 AR 618241
Mitochondrial complex I deficiency, nuclear type 22 AR 618243
Mitochondrial complex I deficiency, nuclear type 23 AR 618244
Mitochondrial complex I deficiency, nuclear type 26 AR 618247
Mitochondrial complex I deficiency, nuclear type 3 AR 618224
Mitochondrial complex I deficiency, nuclear type 32 AR 618252
Mitochondrial complex I deficiency, nuclear type 8 AR 618230
Mitochondrial Complex II Deficiency AR 252011
Mitochondrial Complex III Deficiency, Nuclear Type 8 AR 615838
Mitochondrial Complex IV Deficiency AR 220110
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD AD 617184
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 615471
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) AR 612073
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) AD 245400
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral AR 251880
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy AR 251900
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Molybdenum Cofactor Deficiency Type A AR 252150
Mucopolysaccharidosis, MPS-II XL 309900
Multiple Mitochondrial Dysfunctions Syndrome 1 AR 605711
Multiple Mitochondrial Dysfunctions Syndrome 2 AR 614299
Multiple Mitochondrial Dysfunctions Syndrome 3 AR 615330
Multiple Mitochondrial Dysfunctions Syndrome 4 AR 616370
Multiple Sulfatase Deficiency AR 272200
Muscular dystrophy, limb-girdle, autosomal recessive 23 AR 618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 AR 613818
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD 617755
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination AR 618367
Niemann-Pick Disease Type C1 AR 257220
Niemann-Pick Disease Type C2 AR 607625
Oculodentodigital Dysplasia AD 164200
Ornithine Carbamoyltransferase Deficiency AR 311250
Paragangliomas 4 AD 115310
Pelizaeus-Merzbacher Disease XL 312080
Peroxisomal Acyl-CoA Oxidase Deficiency AR 264470
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 4B AR 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 8B AR 614877
Perrault Syndrome AR 233400
Perrault Syndrome 3 AR 614129
Phenylketonuria AR 261600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy AR 221770
Polymicrogyria, Bilateral Frontoparietal AR 606854
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Progressive Sclerosing Poliodystrophy AR 203700
Pseudo-TORCH Syndrome 1 AR 251290
Pyruvate Carboxylase Deficiency AR 266150
Pyruvate Dehydrogenase E1-Alpha Deficiency XL 312170
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Singleton-Merten Syndrome 1 AD 182250
Sjogren-Larsson Syndrome AR 270200
Spastic Ataxia 3 AR 611390
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy AR 617560
Spastic Ataxia Charlevoix-Saguenay Type AR 270550
Spastic Paraplegia 11 AR 604360
Spastic Paraplegia 15 AR 270700
Spastic paraplegia 35 AR 612319
Spastic Paraplegia 54 AR 615033
Spastic Paraplegia 56 AR 615030
Spastic Paraplegia 5A AR 270800
Spastic Paraplegia 7 AD 607259
Sphingolipid Activator Protein 1 Deficiency AR 249900
Spondyloenchondrodysplasia With Immune Dysregulation AR 607944
Spongy Degeneration Of Central Nervous System AR 271900
Succinate-Semialdehyde Dehydrogenase Deficiency AR 271980
Tay-Sachs Disease AR 272800
Troyer Syndrome AR 275900
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Waardenburg Syndrome, Type 2E AD 611584
Wilson's Disease AR 277900
Woodhouse-Sakati Syndrome AR 241080

Related Test

Name
PGxome®

Citations

  • Kevelam et al. 2016. PubMed ID: 27564080
  • Schiffmann and van der Knaap. 2009. PubMed ID: 19237705
  • Schiffmann et al. 2010. PubMed ID: 20301435
  • Vanderver et al. 2015. PubMed ID: 25649058

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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