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Target HCP Specialty

• Pulmonologists

Patient inclusion criteria

• Clinical diagnosis or radiographic evidence of interstitial lung disease which his determined to be idiopathic in etiology (including idiopathic pulmonary fibrosis, progressive pulmonary fibrosis, familial pulmonary fibrosis. No age Limit.

Patient exclusion criteria

• Patients with confirmed etiology of ILD

Gene panel test

ABCA3, ACVRL1, AP3B1, ATP13A3, BMPR2, CAV1, CCBE1, COPA, CSF2RA, CSF2RB, DICER1, DKC1, EIF2AK4, ENG, FAM111B, FAT4, FGF10, FLCN, FLT4, FOXC2, FOXF1, GATA2, GDF2, GLA, HPS1, HPS4, KCNK3, MARS1, NAF1, NKX2-1, NPC1, NPC2, OAS1, PARN, RTEL1, SERPINA1,SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMAD9, SMPD1, STAT3, STING1, TBX4, TERC, TERT, TINF2, ZCCHC8, FLNA, STRA6, MUC5B, SMAD4, BMPR1B, ELMOD2

Diagnostic Flow

Gene Panel Results available within 21 business days – Enzyme Activity Results available within 3 business days – Lyso GL1 and Lyso GL3 results available within 3 business days – GBA Genetic Test results available within 21 business days.

Manage all your sample requests and results in one place!

Understanding Gaucher

About the Disease

Gaucher disease is an autosomal recessive inherited disease caused by mutations in the GBA gene, which affects the β-glucocerebrosidase enzyme activity, leading to the accumulation of glucocerebroside inside macrophages, especially around the liver, spleen, brain, and bone marrow. This buildup results in a variety of symptoms that can range from mild to severe and can be classified into three clinical types: type 1 (non-neuronopathic GD), type 2 (acute neuronopathic GD), and type 3 (chronic neuronopathic GD).

  • Incidence: An overall  lysosomal storage disorder worldwide and has an overall incidence of 1 in 40,000 to 1 in 60,000 live births. Incidence is much higher (1 in 850) in people with Ashkenazi Jewish ancestry.

    Prevalence: All forms of Gaucher Disease affect males and females in equal numbers. The carrier frequency in general population is 0.7 to 0.8%, while in Ashkenazi Jewish population is 6%.

    Age of onset: Delays in diagnosis of up to 10 years are not uncommon. Age at presentation from GD type 2 occurs around infancy and type 3 around childhood.

    1. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29, 567–583 (2008).
    2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008.
    3. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher Disease: Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med. 2010.
    4. Elstein, D., Mellgard, B., Dinh, Q., Lan, L., Qiu, Y., Cozma, C., Eichler, S., Böttcher, T., & Zimran, A. (2017). Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular Genetics and Metabolism
    5. Stirnemann J, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012
    6. Stone, W., Basit, H. & Master, S. Gaucher Disease. (StatPearls, 2019).
    7. The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. J Inherit Metab Dis. 2020;43:1056–1059.

  • General symptoms include anemia, thrombocytopenia, chronic fatigue, bleeding, splenomegaly, and bone involvement. Type 1 is the most common typically presenting first signs and symptoms during childhood with a slower progression of disease and no CNS compromise. It is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone pain, osteopenia, and fractures. GD has a variable presentation and disease progression, and some patients are diagnosed in late adulthood. Type 2 and type 3 are more severe and usually present in infancy or childhood. Type 2 presents with severe neurological symptoms and rapid progression such as seizures, strabismus, oculomotor apraxia, and hypertonia, while type 3 has neurological symptoms that progress slower, most often including Gaze palsy, predominantly horizontal, with slow or absent saccades. May be accompanied by other neurological symptoms as variable cognitive impairment; motor and coordination deficits (ataxia; hyperreflexia; tremor); partial complex or generalized seizures; dysarthria; dystonia; oppositional defiant behavioral abnormalities and progressive myoclonic epilepsy, among others. Bone disease is present in Type 1 and Type 3 GD and is characterized by bone pain, bone crisis, avascular necrosis, osteopenia, and growth delay in children’s lesions. Pulmonary manifestations and Gaucheromas are more common in GD Type 3. Splenectomized patients have a major risk for active and severe bone disease and pulmonary involvement.

    The nonspecific and often hematologic presenting symptoms of GD1 frequently lead to a delay in the correct diagnosis and appropriate treatment. Misdiagnoses lead to underlying symptom progression, often in the skeletal system, and negative effects on patient health and QoL. Often, other hematologic malignancies are considered first, leading to burdensome specialist referrals and bone marrow biopsies.

    1. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29, 567–583 (2008).
    2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008.
    3. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher Disease: Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med. 2010.
    4. Elstein, D., Mellgard, B., Dinh, Q., Lan, L., Qiu, Y., Cozma, C., Eichler, S., Böttcher, T., & Zimran, A. (2017). Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular Genetics and Metabolism
    5. Stirnemann J, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012
    6. Stone, W., Basit, H. & Master, S. Gaucher Disease. (StatPearls, 2019).
    7. The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. J Inherit Metab Dis. 2020;43:1056–1059.

  • Gaucher disease can be diagnosed by enzyme assay, DNA testing, bone marrow biopsy, organ biopsy, or a combination of these methods.

    Enzymatic testing of peripheral blood samples is the definitive diagnostic tool; results of the assay directly identify the causal enzyme deficiency in leukocytes. However, false negatives or positives are not uncommon (up to 30%) when enzyme testing is used to detect carrier status.2

    The decreased acid β-glucosidase activity of <30% of the normal values in peripheral blood leukocytes or cultured skin fibroblasts is diagnostic for Gaucher. Enzyme testing is diagnostic but not predictive of clinical course; residual enzyme activity is not associated with clinical outcomes.

    Gene sequencing can be used to confirm Gaucher diseases carriers and gives additional insight into disease progression associated with particular allele combinations as well.

    Biochemical markers such as chitotriosidase and chemokine CC motif ligand 18 (CCL18) may be used as supplementary diagnostic tools.3 Elevations in the chemokine CCL18 are indicative of Gaucher disease but may not proportionally reflect symptom severity.
    Another key biomarker, glucosylsphingosine (Lyso-GL1) has also been identified as a promising indicator of disease burden and treatment response in patients with GD1.

    1. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29, 567–583 (2008).
    2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008.
    3. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher Disease: Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med. 2010.
    4. Elstein, D., Mellgard, B., Dinh, Q., Lan, L., Qiu, Y., Cozma, C., Eichler, S., Böttcher, T., & Zimran, A. (2017). Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular Genetics and Metabolism
    5. Stirnemann J, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012
    6. Stone, W., Basit, H. & Master, S. Gaucher Disease. (StatPearls, 2019).
    7. The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. J Inherit Metab Dis. 2020;43:1056–1059.

  • The treatment of Gaucher’s disease aims to manage the clinical signs and symptoms of the disease.

    Two treatment approaches aimed at lowering GL-1 levels are currently available for Gaucher disease Type 1: enzyme replacement therapy (ERT) with recombinant acid β-glucosidase, which augments the deficient enzyme activity in patients and catabolizes stored GL-1 in lysosomes, and substrate reduction therapy (SRT), which acts by partially inhibiting the enzyme glucosylceramide synthase (GCS), thereby reducing the rate of synthesis of GL-1 to better match the impaired rate of catabolism.

    Treatment typically involves enzyme replacement therapy (ERT) which can help reduce symptoms and prevent complications.

    1. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29, 567–583 (2008).
    2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008.
    3. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher Disease: Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med. 2010.
    4. Elstein, D., Mellgard, B., Dinh, Q., Lan, L., Qiu, Y., Cozma, C., Eichler, S., Böttcher, T., & Zimran, A. (2017). Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular Genetics and Metabolism
    5. Stirnemann J, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012
    6. Stone, W., Basit, H. & Master, S. Gaucher Disease. (StatPearls, 2019).
    7. The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. J Inherit Metab Dis. 2020;43:1056–1059.

  • The complications of Gaucher disease can lead to premature mortality; estimated life expectancy among patients with GD1 is about 9 years lower compared with the US general population.

    Delays in the diagnosis of Gaucher disease can lead to severe, sometimes irreversible complications, including bone complications (e.g., chronic bone pain, osteonecrosis, osteofibrosis, lytic lesions, AVN, and bone crises), severe and life-threatening bleeding, growth failure, and functional and symptomatic consequences of visceromegaly (e.g., acute abdominal pain).

    Patients with GD have an increased risk of presenting Parkinson’s disease and malignancies such as multiple myeloma and lymphoma. Type II Gaucher disease, also known as acute neuronopathic Gaucher disease, has a poor prognosis with death occurring within the first years of life. Neurodegeneration is a common complication in type III Gaucher disease, also known as chronic neuronopathic Gaucher disease.

    1. Hruska, K. S., LaMarca, M. E., Scott, C. R. & Sidransky, E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29, 567–583 (2008).
    2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008.
    3. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher Disease: Significant Disease Manifestations in “Asymptomatic” Homozygotes. Arch Intern Med. 2010.
    4. Elstein, D., Mellgard, B., Dinh, Q., Lan, L., Qiu, Y., Cozma, C., Eichler, S., Böttcher, T., & Zimran, A. (2017). Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Molecular Genetics and Metabolism
    5. Stirnemann J, et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012
    6. Stone, W., Basit, H. & Master, S. Gaucher Disease. (StatPearls, 2019).
    7. The definition of neuronopathic Gaucher disease Raphael Schiffmann et al. J Inherit Metab Dis. 2020;43:1056–1059.

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