TestsBazaar - Benefits of Genetic TestingTestsBazaar - Benefits of Genetic Testinghttps://www.testsbazaar.com/blogsSun, 31 Aug 2025 06:05:56 +0530http://zoho.com/sites/<![CDATA[Parkinson's Disease]]>https://www.testsbazaar.com/blogs/post/parkinson-s-diseaseParkinson’s disease (PD) is a progressive neurodegenerative disorder affecting approximately 2% of the population over 60 years of age. Onset before age 21 is referred to as juvenile-onset PD. If symptoms appear before the age of 50, the disease is referred to as early-onset PD.]]>

Parkinson’s disease (PD) is a progressive neurodegenerative disorder affecting approximately 2% of the population over 60 years of age. Onset before age 21 is referred to as juvenile-onset PD. If symptoms appear before the age of 50, the disease is referred to as early-onset PD. The disease is associated with a broad spectrum of motor and non-motor features. Characteristic pathology includes neuronal loss in specific areas of the substantia nigra of the midbrain and widespread intracellular protein α-synuclein accumulation. Primary motor symptoms include tremor, muscle rigidity, and bradykinesia.


Genes Involved: GBA & LRRK2 are two primary causatives. GBA mutations are a common risk for PD and are present in 7–10% of PD patients worldwide.

Globally only 15% of patients report a family history of PD symptoms. The remaining 85% of PD cases are classified as sporadic. The incidence of any known causal PD mutation is rare, occurring in less than 2% of the PD population. The two most common mutated genes associated with familial PD are LRRK2 and PRKN and are reported at frequencies of 0.7% and 0.3% respectively in all people showing PD symptoms.However, the distinction between genetic and sporadic PD is blurry. No single-gene mutation in PD has a 100% penetrance. Multiple genetic risk factors likely act in synergy to increase the risk of both familial and sporadic PD. Such genetic susceptibilities interact with aging and environmental factors to cause disease.


Parkinson's Disease Features

•Decreased facial expression.

•Sleep disturbances

•Abnormal eye movement

•Sensory disturbances e.g., decreased sense of smell

•Symptoms of autonomic dysfunction (constipation, sweating abnormalities, sexual dysfunction, seborrheic dermatitis)

•Weakness, fatigue

•Depression or anhedonia

•Tremor

•Postural instability

•Decreased arm swing on the first-involved side

•Dementia

•Seizures

Parkinson's Disease Test & Therapy

 

  •  Autologous cell therapy
  •  Occupational / physiotherapy to manage gait disturbance
  • Complimentary and supportive therapies for speech & walking
  • Enzyme therapies (with the help of enzyme inhibitors)


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]]>Tue, 31 Oct 2023 18:00:20 +0530<![CDATA[Niemann-Pick Disease]]>https://www.testsbazaar.com/blogs/post/niemann-pick-diseaseNiemann-Pick disease (NPC) is a slow-progressing disorder in which the primary hallmark is an accumulation of lipids in lysosomes. Symptoms are age-dependent. Clinical signs during infancy are limited to the viscera, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates.]]>
Niemann-Pick disease (NPC) is a slow-progressing disorder in which the primary hallmark is accumulation of lipids in lysosomes. Symptoms are age dependent. Clinical signs during infancy are limited to the viscera, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. Beyond late infancy, neurological symptoms begin to manifest. Classic presentation occurs in mid-to-late childhood with onset of ataxia, vertical supranuclear gaze palsy, and dementia. Dystonia and seizures are common features. Adults are likely to present with dementia or psychiatric symptoms.

NPC is inherited in an autosomal recessive manner. It is caused by mutations in either the NPC1 (in 95% of cases) or NPC2 (in 5% of the cases) genes. Most NPC1 cases involve compound heterozygotes of single-nucleotide variants. So far, over 511 variants have been described in NPC1 that cause Niemann Pick disease type C, and over 27 different variants in NPC2. 

Niemann-Pick Disease Types

    Type A: Hepatosplenomegaly (Enlarged liver and spleen), failure to thrive, psychomotor regression, interstitial lung disease eventually leading to respiratory failure, eye abnormality – cherry-red spot, generally do not survive past early childhood.

    Type B: presents in mid-childhood, hepatosplenomegaly, recurrent lung infections, thrombocytopenia (low number of platelets), short stature, slowed bone mineralization, cherry-red spot in one-third of cases, neurological impairment, usually survive into adulthood.

    Type C1 and C2 – become apparent in childhood, ataxia, inability to move eyes vertically (gaze palsy), dystonia (poor muscle tone), severe liver disease, interstitial lung disease, often cases decline in intellectual function, problems with speech and swallowing, one-third cases seizures, may survive into adulthood.


Niemann-Pick Disease Test & Therapy


  • Biochemical test: Acidic sphingomyelinase (Type A & B)
  • Biomarker test: Lyso-Sphingomyelin-509 & Lyso-Sphingomyelin-465 (Type A, B & C). 
  • Gene: SMPD1 (A & B), NPC1/NPC2 (Type C)


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]]>Tue, 31 Oct 2023 17:46:06 +0530<![CDATA[Types of Genetic Testing]]>https://www.testsbazaar.com/blogs/post/types-of-genetic-testingGenetic testing can provide clarity and a firm diagnosis, guide therapy selection and monitoring, and allow disease risk profiling.]]>

Different Types of Genetic Testing:

1. Diagnostic Testing
2. Predictive Testing
3. Carrier Testing
4. Prenatal Testing


DIAGNOSTIC TESTING-GENETIC
is offered to patients to identify genetic mutations that may be causing symptoms and to confirm or rule out a diagnosis.

PREDICTIVE TESTING
is useful for people with no symptoms but who have a probability of carrying a mutation and developing symptoms later in life.

CARRIER TESTING
for people with a family history of a disease and would like to know their risk of developing the disease or the risk of passing it to children.

PRENATAL TESTING
for women planning a pregnancy, or already pregnant, who have a known risk of having a child with a genetic disorder.
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]]>Tue, 10 Jan 2023 14:18:57 +0530<![CDATA[Gaucher’s Disease]]>https://www.testsbazaar.com/blogs/post/types-of-genetic-testing2Gaucher disease (GD) is among the most prevalent, recessively inherited, lysosomal storage disorders (LSDs). A deficiency in the enzyme β-glucocerebrosidase causes it.]]>
Gaucher disease (GD) is among the most prevalent, recessively inherited, lysosomal storage disorders (LSDs). A deficiency in the enzyme β-glucocerebrosidase causes it. Deficient enzymatic activity causes glucosylceramide, the enzyme’s substate, to accumulate in cellular lysosomes, most prominently in macrophages. These glycosphingolipid-laden macrophages are called Gaucher cells. They build up in visceral tissues, liver, spleen, and bone marrow. The accumulation causes an array of symptoms, including hepatosplenomegaly and pancytopenia. It also causes bone complications such as non-specific bone pain, bone crises, avascular necrosis, and pathologic fractures.


Gaucher’s Disease Types

   Type 1 – Non-neuronopathic – mild to severe, may appear anytime from childhood to adulthood. Symptoms: Hepatosplenomegaly, anemia, thrombocytopenia, bone abnormalities, lung disease

   Type 2 and 3 – Neuronopathic forms – affect the central nervous system—symptoms: Seizures, abnormal eye movement, brain damage apart from those mentioned above in Type 1. Type 3 worsens more slowly than type 2. 

Perinatal lethal form – severe or life-threatening complications starting before birth or in infancy. Symptoms: hydrops fetalis, ichthyosis/skin abnormalities

Cardiovascular type – Primarily affects the heart causing calcification of heart valves.


Gaucher’s Disease Test & Therapy


  • Biochemical test: Beta-glucocerebrosidase
  • Biomarker: Glucosylsphingosine (Lyso-Gb1) + Glucosylceramide (GlucCer)
  • Cerezyme (imiglucerase - sanofi) /VPRIV (velaglucerase alfa – Shire HGT) /Elelyso (taliglucerase alfa - Protalix) – ERT
  • Cerdelga (eliglustat) /Zavesca (miglustat) – Substrate Reduction Therapy
  • Gene: GBA
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]]>Tue, 10 Jan 2023 14:18:57 +0530<![CDATA[Benefits of Genetic Testing]]>https://www.testsbazaar.com/blogs/post/benefits-of-genetic-testingGenetic testing can provide clarity and a firm diagnosis, guide therapy selection and monitoring, and allow disease risk profiling.]]>

What Is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.


DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quicky and reliaby test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can also often aid in diagnosing disease earlier and can also enable continuous therapy monitoring, especially in lysosomal storage disorders

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