Lysosomal Storage Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13065 ABCC8 81407,81479 Order Options and Pricing
ABCD1 81405,81479
ABHD5 81479,81479
ACOX1 81479,81479
ACY1 81479,81479
ADAMTS10 81479,81479
ADAMTSL2 81479,81479
ADSL 81479,81479
AGA 81479,81479
ALDH7A1 81406,81479
AMACR 81479,81479
AMT 81479,81479
ANTXR2 81479,81479
AP3B1 81479,81479
ARG1 81479,81479
ARSA 81405,81479
ARSB 81479,81479
ASAH1 81479,81479
ASPA 81479,81479
ATG5 81479,81479
ATP13A2 81479,81479
ATP6AP1 81479,81479
BLOC1S3 81479,81479
BLOC1S6 81479,81479
BTD 81404,81479
CLCN5 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
COL11A2 81479,81479
COL2A1 81479,81479
CTNS 81479,81479
CTSA 81479,81479
CTSC 81479,81479
CTSD 81479,81479
CTSF 81479,81479
CTSK 81479,81479
DHCR7 81405,81479
DNAJC5 81479,81479
DNM1L 81479,81479
DPYD 81479,81479
DTNBP1 81479,81479
DYM 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
FAR1 81479,81479
FBN1 81408,81479
FH 81479,81479
FIG4 81406,81479
FOLR1 81479,81479
FUCA1 81479,81479
GAA 81406,81479
GALC 81479,81479
GALNS 81479,81479
GAMT 81479,81479
GBA 81479,81479
GCDH 81406,81479
GLA 81405,81479
GLB1 81479,81479
GLDC 81479,81479
GM2A 81479,81479
GNE 81406,81479
GNPAT 81479,81479
GNPTAB 81479,81479
GNPTG 81479,81479
GNS 81479,81479
GPC3 81479,81479
GRN 81406,81479
GUSB 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HGSNAT 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
HRAS 81404,81479
HSD17B4 81479,81479
HYAL1 81479,81479
IDS 81405,81479
IDUA 81406,81479
KCTD7 81479,81479
KMT2D 81479,81479
L2HGDH 81479,81479
LAMA2 81408,81479
LAMP2 81405,81479
LDB3 81406,81479
LIPA 81479,81479
LTBP2 81479,81479
LYST 81479,81479
MAN1B1 81479,81479
MAN2B1 81479,81479
MANBA 81479,81479
MCOLN1 81479,81479
MFSD8 81479,81479
MLPH 81479,81479
MOCS1 81479,81479
MOCS2 81479,81479
MYO5A 81479,81479
MYOT 81405,81479
NAGA 81479,81479
NAGLU 81479,81479
NEU1 81479,81479
NPC1 81406,81479
NPC2 81404,81479
NPR2 81479,81479
OCRL 81479,81479
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
PEX7 81479,81479
PGK1 81479,81479
PHYH 81479,81479
PNPLA2 81479,81479
PPT1 81479,81479
PSAP 81479,81479
QDPR 81479,81479
RAB27A 81479,81479
RAI1 81405,81479
SCARB2 81479,81479
SCP2 81479,81479
SGSH 81479,81479
SLC17A5 81479,81479
SLC25A15 81479,81479
SLC46A1 81479,81479
SLC9A6 81406,81479
SMPD1 81479,81479
SUMF1 81479,81479
SUOX 81479,81479
TCF4 81406,81405
TPP1 81479,81479
TRIM37 81479,81479
VPS33A 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13065Genes x (146)81479 81404, 81405, 81406, 81407, 81408, 81479 $1280 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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Lysosomal storage disorders are rare inborn errors of metabolism characterized by lysosomal dysfunction, often presenting with neurodegeneration, visceromegaly, metabolic dysfunction, and impaired growth in infancy and childhood, with symptom onset as early as the prenatal period and as late as adulthood (Platt et al. 2018. PubMed ID: 30275469). Lysosomes are membrane-bound organelles that serve as the primary degradative compartment of eukaryotic cells, and play an important role in removal of toxic cellular components, elimination of ‘worn-out’ organelles, termination of signal transduction, and maintenance of metabolic homeostasis (Ballabio and Bonifacino. 2020. PubMed ID: 31768005). At the molecular level, lysosomal storage disorders result from a biochemical deficiency of key lysosomal proteins such as hydrolases, which breakdown complex macromolecules into amino acids, monosaccharides, and free fatty acids, and permeases, which facilitate transport of macromolecules across the limiting membrane of the lysosome, as well as non-lysosomal proteins that are important for lysosomal function (Platt et al. 2018. PubMed ID: 30275469). Defects that impair breakdown or transport of complex macromolecules and their products lead to the accumulation (or storage) of undigested or partially digested macromolecules in the lysosomes, which ultimately results in cellular damage and disease (Seranova et al. 2017. PubMed ID: 29233882; Marques and Saftig. 2019. PubMed ID: 30651381). While neurodegeneration is a major clinical feature of many lysosomal storage disorders, clinical manifestations often involve multiple organ systems and can be systemic in nature. Other clinical features of lysosomal storage disorders may include dysmorphic facial features, hearing and vision impairment, bone and joint involvement, skin abnormalities, as well as pulmonary, gastrointestinal, cardiovascular, and hematological symptoms (Platt et al. 2018. PubMed ID: 30275469).

Lysosomal storage disorders are individually rare, but collectively common, with a worldwide incidence estimated at 1:5,000 (Platt et al. 2018. PubMed ID: 30275469). Incidences for individual disorders vary by population, with some lysosomal storage disorders occurring more frequently in certain ethnic groups and geographic regions due to founder effects (Nalysnyk et al. 2017. PubMed ID: 27762169; Leslie et al. 2017. PubMed ID: 20301438), and in ethnic groups where consanguineous marriage is prevalent (Elmonem et al. 2016. PubMed ID: 26830282).

A molecular diagnosis may aid in implementation of a therapeutic strategy for patients with a lysosomal storage disorder. Presymptomatic and early treatment with disease specific interventions, including enzyme replacement, substrate reduction, and chaperone therapies, can slow the progression of some lysosomal storage disorders (Platt. 2018. PubMed ID: 29147032). Patients and their families may also benefit from a molecular diagnosis for prognostic information, symptom management, and reproductive planning.

Genetics

This test includes ~70 genes known to be monogenic causes of lysosomal storage disorders (Platt et al. 2018. PubMed ID: 30275469), as well as genes for disorders that may be difficult to distinguish phenotypically from lysosomal storage disorders. Genes were identified through the literature, OMIM, and HGMD searches.

Lysosomal storage disorders are clinically and genetically heterogeneous. The vast majority of lysosomal storage disorders are inherited in an autosomal recessive (AR) manner, but may also be inherited in an X-linked (XL) manner (such as Mucopolysaccharidosis II, Danon disease, and Fabry disease) or an autosomal dominant (AD) manner (such as neuronal ceroid lipofuscinosis-4B).

Disorders resulting from defects in sphingolipid metabolism, commonly referred to as the sphingolipidoses, are among the most prevalent subtypes of lysosomal storage disorders, with a combined incidence of approximately 1:10,000 (Genetics Home Reference; Kolter and Sandhoff. 2006. PubMed ID: 16854371). For example, biallelic pathogenic variants in GBA result in autosomal recessive Gaucher disease, a sphingolipidosis characterized by acidic glucocerebrosidase enzyme deficiency and therefore aberrant accumulation of the sphingolipid glucosylceramide within the lysosome (Pastores et al. 2018. PubMed ID: 20301446). Pathogenic variants in GLA result in X-linked Fabry disease, an inborn error of glycosphingolipid catabolism caused by alpha-galactosidase A enzyme deficiency and therefore aberrant accumulation of globotriaoslyceramide (Gb3) within the lysosome (Mehta et al. 2017. PubMed ID: 20301469). Gaucher disease is estimated to account for ~13% of all lysosomal storage disorder cases, while Fabry disease is estimated to account for ~7% of all lysosomal storage disorder cases (Meikle et al. 1999. PubMed ID: 9918480; Poorthuis et al. 1999. PubMed ID: 10480370; Pinto et al. 2004. PubMed ID: 14685153; Poupetová et al. 2010. PubMed ID: 20490927; Kadali et al. 2014. PubMed ID: 24700663; Elmonem et al. 2016. PubMed ID: 26830282).

Disorders resulting from defects in glycosaminoglycan catabolism, commonly referred to as the mucopolysaccharidoses, are a similarly prevalent subtype of lysosomal storage disorders, with a combined incidence of approximately 1:20,000 to 1:25,000 (Genetics Home Reference; Cimaz and La Torre. 2014. PubMed ID: 24264718; Kondo et al. 2017. PubMed ID: 28013294). For example, biallelic pathogenic variants in IDUA result in autosomal recessive mucopolysaccharidosis type I (MPSI) as a result of alpha-L-iduronidase deficiency and aberrant accumulation of the glycosaminoglycans dermatan sulfate and heparin sulfate (Clarke and Clarke. 2016. PubMed ID: 20301341). Pathogenic variants IDS cause X-linked recessive mucopolysaccharidosis type II (MPSII), characterized by iduronate sulfatase deficiency and aberrant accumulation of the same glycosaminoglycans dermatan sulfate and heparin sulfate (Scarpa and Scarpa. 2018. PubMed ID: 20301451). Notably, MPSI and MPSII account for approximately ~14% of all lysosomal storage disorder cases (Meikle et al. 1999. PubMed ID: 9918480; Poorthuis et al. 1999. PubMed ID: 10480370; Pinto et al. 2004. PubMed ID: 14685153; Poupetová et al. 2010. PubMed ID: 20490927; Kadali et al. 2014. PubMed ID: 24700663; Elmonem et al. 2016. PubMed ID: 26830282).

Biallelic pathogenic variants in GAA cause autosomal recessive Pompe disease as a result of acid alpha glucosidase deficiency and progressive accumulation of glycogen in lysosomes (Leslie et al. 2017. PubMed ID: 20301438). Pompe disease is similarly prevalent with an estimated incidence of 1:40,000 people in the United States (Genetics Home Reference), with increased incidence of up to 1:14,000 among African Americans (Leslie et al. 2017. PubMed ID: 20301438). Pompe disease accounts for ~9% of all diagnosed lysosomal storage disorder cases (Meikle et al. 1999. PubMed ID: 9918480; Poorthuis et al. 1999. PubMed ID: 10480370; Pinto et al. 2004. PubMed ID: 14685153; Poupetová et al. 2010. PubMed ID: 20490927; Kadali et al. 2014. PubMed ID: 24700663; Elmonem et al. 2016. PubMed ID: 26830282).

Combined, these five (Gaucher and Fabry disease, Muccopolysaccharidosis types I and II, and Pompe disease) of the ~70 monogenic lysosomal storage disorders are estimated to account for approximately 40% of all diagnosed cases (Meikle et al. 1999. PubMed ID: 9918480; Poorthuis et al. 1999. PubMed ID: 10480370; Pinto et al. 2004. PubMed ID: 14685153; Poupetová et al. 2010. PubMed ID: 20490927; Kadali et al. 2014. PubMed ID: 24700663; Elmonem et al. 2016. PubMed ID: 26830282).  A wide variety of causative variants in the ~70 monogenic lysosomal storage disorders genes have been reported including missense, nonsense, splicing, small insertions/deletions, large deletions/duplications and complex rearrangements (Human Gene Mutation Database). Pseudodeficiency alleles, or clinically benign gene variants that result in reduced biochemical activity, have also been associated with Tay-Sachs disease (HEXA), Pompe disease (GAA), metachromatic leukodystrophy (ARSA), MPS I (IDUA), GM1-gangliosidosis (GLB1), Krabbe disease (GALC), Sandhoff disease (HEXB), Fabry disease (GLA), MPS VII (GUSB), and fucosidosis (FUCA).

See individual gene summaries for information about the molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. In retrospective studies, approximately 20-30% of patients with a clinical suspicion of a lysosomal storage disease were enzymatically diagnosed (Kadali et al. 2014. PubMed ID: 24700663; Elmonem et al. 2016. PubMed ID: 26830282). This panel includes all known monogenic causes of lysosomal storage disorders (Platt et al. 2018. PubMed ID: 30275469), thus maximum possible clinical sensitivity should be obtained.

Testing Strategy

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

This panel typically provides 99.5% 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This test is suitable for patients presenting with neurodegeneration, developmental delay, intellectual disability, visceromegaly, metabolic dysfunction, growth impairment, and/or multi-system involvement suggesting a storage or non-specific storage-like disorder. This test may be especially useful for patients with inconclusive enzyme analysis or single gene sequencing testing, or patients whose phenotype does not fit a specific storage disorder. If a single lysosomal storage disorder is suspected, enzyme analysis or individual gene sequencing should be considered prior to this test.

Genes

Official Gene Symbol OMIM ID
ABCC8 600509
ABCD1 300371
ABHD5 604780
ACOX1 609751
ACY1 104620
ADAMTS10 608990
ADAMTSL2 612277
ADSL 608222
AGA 613228
ALDH7A1 107323
AMACR 604489
AMT 238310
ANTXR2 608041
AP3B1 603401
ARG1 608313
ARSA 607574
ARSB 611542
ASAH1 613468
ASPA 608034
ATG5 604261
ATP13A2 610513
ATP6AP1 300197
BLOC1S3 609762
BLOC1S6 604310
BTD 609019
CLCN5 300008
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
COL11A2 120290
COL2A1 120140
CTNS 606272
CTSA 613111
CTSC 602365
CTSD 116840
CTSF 603539
CTSK 601105
DHCR7 602858
DNAJC5 611203
DNM1L 603850
DPYD 612779
DTNBP1 607145
DYM 607461
ETFA 608053
ETFB 130410
ETFDH 231675
FAR1 616107
FBN1 134797
FH 136850
FIG4 609390
FOLR1 136430
FUCA1 612280
GAA 606800
GALC 606890
GALNS 612222
GAMT 601240
GBA 606463
GCDH 608801
GLA 300644
GLB1 611458
GLDC 238300
GM2A 613109
GNE 603824
GNPAT 602744
GNPTAB 607840
GNPTG 607838
GNS 607664
GPC3 300037
GRN 138945
GUSB 611499
HEXA 606869
HEXB 606873
HGSNAT 610453
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
HRAS 190020
HSD17B4 601860
HYAL1 607071
IDS 300823
IDUA 252800
KCTD7 611725
KMT2D 602113
L2HGDH 609584
LAMA2 156225
LAMP2 309060
LDB3 605906
LIPA 613497
LTBP2 602091
LYST 606897
MAN1B1 604346
MAN2B1 609458
MANBA 609489
MCOLN1 605248
MFSD8 611124
MLPH 606526
MOCS1 603707
MOCS2 603708
MYO5A 160777
MYOT 604103
NAGA 104170
NAGLU 609701
NEU1 608272
NPC1 607623
NPC2 601015
NPR2 108961
OCRL 300535
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
PEX7 601757
PGK1 311800
PHYH 602026
PNPLA2 609059
PPT1 600722
PSAP 176801
QDPR 612676
RAB27A 603868
RAI1 607642
SCARB2 602257
SCP2 184755
SGSH 605270
SLC17A5 604322
SLC25A15 603861
SLC46A1 611672
SLC9A6 300231
SMPD1 607608
SUMF1 607939
SUOX 606887
TCF4 602272
TPP1 607998
TRIM37 605073
VPS33A 610034
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Achondrogenesis Type 2 AD 200610
Acromesomelic Dysplasia Maroteaux Type AR 602875
Acromicric Dysplasia AD 102370
Adenylosuccinate Lyase Deficiency AR 103050
Adrenoleukodystrophy XL 300100
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Aminoacylase 1 Deficiency AR 609924
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Arginase Deficiency AR 207800
Aspartylglycosaminuria AR 208400
Avascular Necrosis Of Femoral Head, Primary AD 608805
Beta-D-Mannosidosis AR 248510
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bladder Cancer 109800
Cerebral Folate Deficiency AR 613068
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Chanarin-Dorfman Syndrome AR 275630
Charcot-Marie-Tooth disease, axonal, type 2V AD 616491
Charcot-Marie-Tooth Disease, Type 4J AR 611228
Chediak-Higashi Syndrome AR 214500
Combined Saposin Deficiency AR 611721
Corneal dystrophy, Fuchs endothelial, 3 AD 613267
Costello Syndrome AD 218040
Cystinosis AR 219800
Cystinosis, Ocular Nonnephropathic AR 219750
Czech Dysplasia Metatarsal Type AD 609162
D-Bifunctional Protein Deficiency AR 261515
Danon Disease XL 300257
Deafness, Autosomal Dominant 13 AD 601868
Deafness, Autosomal Recessive 53 AR 609706
Deficiency Of Alpha-Mannosidase AR 248500
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Dent Disease 1 XL 300009
Dent Disease 2 XL 300555
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diabetes mellitus, permanent neonatal 3, with or without neurologic features 618857
Dihydropteridine Reductase Deficiency AR 261630
Dihydropyrimidine Dehydrogenase Deficiency AR 274270
Dilated Cardiomyopathy 1C AD 601493
Dyggve-Melchior-Clausen Syndrome AR 223800
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Epidermal Nevus 162900
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epiphyseal chondrodysplasia, Miura type AD 615923
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Fabry's Disease XL 301500
Farber's Lipogranulomatosis AR 228000
Fibrochondrogenesis 2 AR 614524
Folate Malabsorption, Hereditary AR 229050
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Fucosidosis AR 230000
Fumarase Deficiency AR 606812
Galactosialidosis AR 256540
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Ganglioside Sialidase Deficiency AR 252650
Gangliosidosis GM1 Type 3 AR 230650
Gaucher Disease, Atypical, Due To Saposin C Deficiency 610539
Gaucher Disease, Perinatal Lethal AR 608013
Gaucher Disease, Type 1 AR 230800
Gaucher Disease, Type II AR 230900
Gaucher Disease, Type III AR 231000
Gaucher Disease, Type IIIc AR 231005
Geleophysic Dysplasia AR 231050
Geleophysic Dysplasia 2 AD 614185
Glaucoma 3, Primary Congenital, D 613086
Glutaric Aciduria, Type 1 AR 231670
Glutaric Aciduria, Type 2 AR 231680
Glycine Encephalopathy AR 605899
Glycogen Storage Disease Type II AR 232300
GNE Myopathy AR 605820
Griscelli Syndrome Type 1 AR 214450
Griscelli Syndrome Type 2 AR 607624
Griscelli Syndrome Type 3 AR 609227
Haim-Munk Syndrome AR 245010
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hereditary Leiomyomatosis And Renal Cell Cancer AD 150800
Hermansky-Pudlak Syndrome 1 AR 203300
Hermansky-Pudlak Syndrome 2 AR 608233
Hermansky-Pudlak Syndrome 3 AR 614072
Hermansky-Pudlak Syndrome 4 AR 614073
Hermansky-Pudlak Syndrome 5 AR 614074
Hermansky-Pudlak Syndrome 6 AR 614075
Hermansky-Pudlak Syndrome 7 AR 614076
Hermansky-Pudlak Syndrome 8 AR 614077
Hermansky-Pudlak Syndrome 9 AR 614171
Hurler Syndrome AR 607014
Hyaline Fibromatosis Syndrome AR 228600
Hyperinsulinemic Hypoglycemia, Familial, 1 AR 256450
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome AR 238970
Hypophosphatemic Rickets, X-Linked Recessive XL 300554
I Cell Disease AR 252500
Immunodeficiency and Hepatopathy with Cutis Laxa XL 300972
Infantile Gm1 Gangliosidosis AR 230500
Juvenile GM1 Gangliosidosis AR 230600
Juvenile Nephropathic Cystinosis AR 219900
Kabuki Syndrome 1 AD 147920
Kanzaki Disease AR 609242
Kniest Dysplasia AD 156550
Krabbe Disease Atypical Due To Saposin A Deficiency AR 611722
L-2-Hydroxyglutaric Aciduria AR 236792
Legg-Calve-Perthes Disease AD 150600
Leucine-Induced Hypoglycemia AD 240800
Leukoencephalopathy with Dystonia and Motor Neuropathy AR 613724
Lewy Body Dementia AD 127750
Lowe Syndrome XL 309000
Lysosomal Acid Lipase Deficiency AR 278000
Macular Dystrophy with Central Cone Involvement AR 616170
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Mental Retardation, Autosomal Recessive 15 AR 614202
Mental Retardation, X-Linked, Syndromic, Christianson Type XL 300243
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Metachromatic Leukodystrophy AR 250100
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma AR 251750
Molybdenum Cofactor Deficiency Type A AR 252150
Molybdenum Cofactor Deficiency Type B AR 252160
Morquio Syndrome A AR 253000
Mucolipidosis III Gamma AR 252605
Mucopolysaccharidosis Type IX AR 601492
Mucopolysaccharidosis Type VI AR 253200
Mucopolysaccharidosis Type VII AR 253220
Mucopolysaccharidosis, MPS-I-H/S AR 607015
Mucopolysaccharidosis, MPS-I-S AR 607016
Mucopolysaccharidosis, MPS-II XL 309900
Mucopolysaccharidosis, MPS-III-A AR 252900
Mucopolysaccharidosis, MPS-III-B AR 252920
Mucopolysaccharidosis, MPS-III-C AR 252930
Mucopolysaccharidosis, MPS-III-D AR 252940
Mucopolysaccharidosis, MPS-IV-B AR 253010
Mucopolysaccharidosis-plus syndrome AR 617303
Mulibrey Nanism Syndrome AR 253250
Multiple Carboxylase Deficiency, Juvenile Onset AR 253260
Multiple Sulfatase Deficiency AR 272200
Muscular dystrophy, limb-girdle, autosomal recessive 23 AR 618138
Myofibrillar Myopathy, ZASP-Related AD 609452
Myotilinopathy AD 609200
Neutral Lipid Storage Disease With Myopathy AR 610717
Niemann-Pick Disease Type C1 AR 257220
Niemann-Pick Disease Type C2 AR 607625
Niemann-Pick Disease, Type A AR 257200
Niemann-Pick Disease, Type B AR 607616
Optic atrophy 5 AD 610708
Osteoarthritis With Mild Chondrodysplasia AD 604864
Otospondylomegaepiphyseal Dysplasia AR 215150
Papillon-Lefevre Syndrome AR 245000
Parkinson's Disease MF 168600
Periodontitis, Aggressive, 1 AR 170650
Peroxisomal Acyl-CoA Oxidase Deficiency AR 264470
Peroxisomal fatty acyl-CoA reductase 1 disorder AR 616154
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
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 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AR 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Perrault Syndrome AR 233400
Phosphoglycerate Kinase 1 Deficiency XL 300653
Pitt-Hopkins Syndrome AD 610954
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polymicrogyria, bilateral temporooccipital AR 612691
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis XL 308990
Pseudo-Hurler Polydystrophy AR 252600
Pyknodysostosis AR 265800
Pyridoxine-Dependent Epilepsy AR 266100
Refsum Disease, Classic AR 266500
Retinitis Pigmentosa 73 AR 616544
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic Chondrodysplasia Punctata Type 2 AR 222765
Rhizomelic chondrodysplasia punctata, type 5 AR 616716
Salla Disease AR 604369
Sandhoff Disease AR 268800
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schindler Disease, Type 1 AR 609241
Short stature with nonspecific skeletal abnormalities AD 616255
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Sialidosis, Type II AR 256550
Sialuria AD 269921
Simpson-Golabi-Behmel Syndrome XL 312870
Smith McCort Dysplasia AR 607326
Smith-Lemli-Opitz Syndrome AR 270400
Smith-Magenis Syndrome AD 182290
Spastic Paraplegia 78 AR 617225
Spheroid Body Myopathy AD 182920
Sphingolipid Activator Protein 1 Deficiency AR 249900
Spinal muscular atrophy with progressive myoclonic epilepsy AR 159950
Spinocerebellar ataxia, autosomal recessive 25 AR 617584
Spinocerebellar ataxia, autosomal recessive 7 AR 609270
Spitz nevus or nevus spilus, somatic 137550
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloperipheral Dysplasia AD 271700
Spongy Degeneration Of Central Nervous System AR 271900
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 3 AD 184840
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Stiff Skin Syndrome AD 184900
Sulfite Oxidase Deficiency AR 272300
Tay-Sachs Disease AR 272800
Tay-Sachs disease AB Variant AR 272750
Thyroid Cancer, Follicular 188470
Transient Neonatal Diabetes Mellitus 2 610374
Weill-Marchesani Syndrome 1 AR 277600
Weill-Marchesani Syndrome 2 AD 608328
Weill-Marchesani Syndrome 3 AR 614819
Wilms' Tumor 194070
X-Linked Recessive Nephrolithiasis With Renal Failure XL 310468
Yunis-Varon Syndrome AR 216340

Related Test

Name
PGxome®

Citations

  • Ballabio and Bonifacino. 2020. PubMed ID: 31768005
  • Cimaz and La Torre. 2014. PubMed ID: 24264718
  • Clarke and Clarke. 2016. PubMed ID: 20301341
  • Elmonem et al. 2016. PubMed ID: 26830282
  • Genetics Home Reference.
  • Human Gene Mutation Database (Biobase).
  • Kadali et al. 2014. PubMed ID: 24700663
  • Kolter and Sandhoff. 2006. PubMed ID: 16854371
  • Kondo et al. 2017. PubMed ID: 28013294
  • Leslie et al. 2017. PubMed ID: 20301438
  • Marques and Saftig. 2019. PubMed ID: 30651381
  • Mehta et al. 2017. PubMed ID: 20301469
  • Meikle et al. 1999. PubMed ID: 9918480
  • Nalysnyk et al. 2017. PubMed ID: 27762169
  • Pastores et al. 2018. PubMed ID: 20301446
  • Pinto et al. 2004. PubMed ID: 14685153
  • Platt et al. 2018. PubMed ID: 30275469
  • Platt. 2018. PubMed ID: 29147032
  • Poorthuis et al. 1999. PubMed ID: 10480370
  • Poupetov√° et al. 2010. PubMed ID: 20490927
  • Scarpa and Scarpa. 2018. PubMed ID: 20301451
  • Seranova et al. 2017. PubMed ID: 29233882

Ordering/Specimens

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  • 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


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