Diagnostics Services

Hemoglobinopathies are one of the most common monogenic diseases worldwide affecting over 7% of the population. The term Hemoglobinopathy umbrellas all hemoglobin disorders which are divided into two groups Thalassemia Syndromes and Structural Haemoglobin variants,

Hemoglobinopathy diagnosis involves a red blood cell (RBC) count with erythrocyte indices, and a hemoglobin test (hemoglobin electrophoresis and/or chromatography)

Thalessimia Syndromes: To determine the genetic type of β-thalassemia major; molecular diagnosis of β-thalassemia intermedia; mixed forms of hemoglobinopathy; suspected silent β-thalassemia gene carriers; diagnosis of α-thalassemias; as part of genetic enquiries (families, partners, prenatal diagnosis).

Structural Haemoglobin variants: To identify rare abnormalities; for clarification in the absence of electrophoretic or chromatographic separation; as part of genetic enquiries (families, partners, prenatal diagnosis); mixed forms of more than one hemoglobinopathy.

Neuromuscular diseases cover a number of disorders either via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairing a muscle function. The diagnostic information should be interpreted within the context of family history, physical examination findings, laboratory data, pathological finding and molecular genetic findings. In a few cases, a precise diagnostic is not medically possible. The confirmation of such diagnosis allows early detection and subsequent medical counseling that help specific patients to undergo clinically important drug trials.

The diagnostic tests that are used to assess cognitive impairment in neurodegenerative diseases are based on established clinical criteria. Physicians need to have access to diagnostic tests, such as neurofunctional imaging, that allow higher specificity in clinical assessment.

Fragile X syndrome: Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The clinical diagnosis of this syndrome is not possible because the dysmorphic features are subtle. However, molecular diagnosis can be carried out to confirm the carrier detection and prenatal diagnosis is also possible.

It is important that the diagnostic information that is revealed from routine tests provides information on history of bleeding, especially in cases where a family history is prominent.

Nonsyndromic hearing loss can be classified in several different ways. One method is by observing the condition’s pattern of inheritance which includes, autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX) or mitochondrial. These are further divided into  multiple subtypes and numbered accordingly. Each of these types of hearing loss includes multiple subtypes.

One of the best practises to diagnose cystic fibrosis is neonatal screening.  Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing.

Diagnosing mitochondrial disorders can be challenging as it affects multiple organs in the body. MD occurs due to alteration of mitochondrial respiratory chain complex function resulting from a genetic mutation. These mutations occur in nuclear or mitochondrial genomes and maybe present only in a subset of cells. The most reliable way to diagnose mitochondrial disorder is to undergo genetic testing as various symptoms that don’t involve mitochondria have similar symptoms. The genetic tests often begin with analyzing the mitochondrial DNA and depending on the results the patient’s nucleus may need to be completely analyzed through whole exome sequencing.