Genomics Precision Diagnostic > Metabolic Precision Panel > Lysosomal Storage Diseases Precision Panel

Lysosomal Storage Diseases Precision Panel

Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes.

Overview

Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes. Lysosomes are responsible for the physiologic turnover and digestion of cell constituents and do so with the help of catabolic enzymes. The accumulation of products inside the lysosomes results in cellular dysfunction and clinical abnormalities. Organomegaly, connective-tissue, ocular pathology and central nervous system dysfunction. It is transmitted in an autosomal recessive pattern.
The Igenomix Lysosomal Storage Diseases Precision Panel can be used to make an accurate and directed diagnosis as well ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Lysosomal Storage Diseases Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Intellectual disability
- Delayed physical development
- Seizures
- Facial and bone deformities
- Joint stiffness and pain
- Difficulty breathing
- Vision and hearing difficulties
- Anemia, nosebleeds and easy bleeding or bruising
- Enlarged liver or spleen

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form enzyme replacement therapy, substrate reduction therapy, chaperone therapy and nutritional recommendations and frequent consultations to monitor possible complications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ASAH1*	Farber Lipogranulomatosis, Spinal Muscular Atrophy	AR	99.98	69 of 70
*ATP13A2*	Kufor-Rakeb Syndrome, Spastic Paraplegia, Neuronal Ceroid Lipofuscinosis	AR	99.97	53 of 53
*CA2*	Osteopetrosis, Tubular Acidosis	AR	100	36 of 36
*CLCN7*	Hypopigmentation, Osteopetrosis	AD,AR	99.85	109 of 111
*CLN3*	Ceroid Lipofuscinosis	AR	99.93	73 of 75
*CLN5*	Ceroid Lipofuscinosis	AR	99.56	52 of 55
*CLN6*	Ceroid Lipofuscinosis	AR	99.94	98 of 99
*CLN8*	Ceroid Lipofuscinosis, Progressive Epilepsy- Intellectual Disability Syndrome	AR	100	44 of 45
*CTSD*	Ceroid Lipofuscinosis	AR	100	18 of 18
*CTSF*	Ceroid Lipofuscinosis	AR	92.18	12 of 12
*DNAJC5*	Ceroid Lipofuscinosis	AD	100	2 of 2
*GALNS*	Morquio Syndrome	AR	100	344 of 348
*GBA*	Dementia, Gaucher Disease, Parkinson Disease	AD,AR	100	469 of 471
*GLA*	Fabry Disease	X,XR,G	98	–
*GLB1*	Gm1-Gangliosidosis, Morquio Syndrome	AR	100	242 of 243
*GNPTAB*	Mucolipidosis	AR	100	279 of 280
*GRN*	Ceroid Lipofuscinosis, Frontotemporal Lobar Degeneration, Semantic Dementia	AD,AR	100	220 of 229
*IDS*	Mucopolysaccharidosis	X,XR,G	99.86	–
*IDUA*	Hurler Syndrome, Scheie Syndrome	AR	99.73	287 of 292
*KCTD7*	Epilepsy	AR	99.99	40 of 40
*LAMP2*	Danon Disease, Glycogen Storage Disease	X,XD,G	99.96	–
*LIPA*	Cholesteryl Ester Storage Disease, Wolman Disease	AR	99.91	103 of 104
*LMBRD1*	Methylmalonic Aciduria , Methylmalonic Acidemia, Homocystinuria	AR	99.88	8 of 8
*MAN2B1*	Mannosidosis	AR	100	149 of 149
*MANBA*	Mannosidosis	AR	99.98	20 of 20
*MFSD8*	Ceroid Lipofuscinosis, Macular Dystrophy	AR	100	63 of 63
*MYO5A*	Griscelli Syndrome, Neuroectodermal Melanolysosomal Disease	AR	100	10 of 10
*NPC1*	Niemann-Pick Disease	AR	97	503 of 505
*NPC2*	Niemann-Pick Disease	AR	100	27 of 27
*OCRL*	Dent Disease, Lowe Oculocerebrorenal Syndrome	X,XR,G	100	–
*PPT1*	Ceroid Lipofuscinosis	AR	100	81 of 81
*PSAP*	Combined Saposin Deficiency, Gaucher Disease, Krabbe Disease, Metachromatic Leukodystrophy, Encephalopathy	AR	100	33 of 33
*SCARB2*	Action Myoclonus-Renal Failure Syndrome, Gaucher Disease, Unverricht-Lundborg Disease	AR	99.95	29 of 29
*SMPD1*	Niemann-Pick Disease	AR	99.98	258 of 258
*TNFRSF11B*	Paget Disease Of Bone, Calcium Pyrophosphate Deposition	AR	99.98	16 of 16
*TPP1*	Ceroid Lipofuscinosis, Spinocerebellar Ataxia	AR	100	147 of 147
*TPP2*	Autoimmune Hemolytic Anemia– Autoimmune Thrombocytopenia- Primary Immunodeficiency Syndrome	–	99.84	11 of 11

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Lysosomal Storage Diseases Precision Panel

Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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