HLA-B27

Genetic marker for acute anterior uveitis/spondyloarthropathies.

Antinuclear Antibody (ANA)

Screens for autoimmune conditions like lupus, which can cause uveitis.

FTA-ABS / VDRL / RPR

Blood tests for syphilis, a known cause of eye inflammation.

Serum Angiotensin-Converting Enzyme (ACE) & Lysozyme

Screens for Sarcoidosis.

QuantiFERON-TB Gold / PPD

Tests for tuberculosis, which can cause uveitis.

Anticardiolipin Antibodies / Lupus Anticoagulant

Assesses for clotting disorders (thrombophilia) in retinal vein occlusions.

Serum Protein Electrophoresis (SPEP)

Used to look for underlying cancer or blood diseases.

GEN SEQUENCING (13 Genes)

CATARACT

GEN SEQUENCING

GLAUCOMA

GEN SEQUENCING

RETINITIS PIGMENTOSA

CSF LEAKAGE EVALUATION

Checks for cerebrospinal fluid leakage.

Epstein-Barr Virus (EBV) Serology

Used for screening for nasopharyngeal carcinoma (nose/throat cancer) in high-risk patients.

Complete Blood Count (CBC)

Used to check for white blood cell count elevated by infections (e.g., sinusitis, tonsillitis) or anemia.

Erythrocyte Sedimentation Rate (ESR) / C-Reactive Protein (CRP)

Used to measure general inflammation in the body.

Allergy Panel/Specific IgE Panels

Used to identify allergies that cause chronic sinus issues, nasal congestion, or ear problems.

Total IgE

To determine if allergies are a factor in symptoms.

Thyroid Function Tests (TFT/TSH, T3, T4)

Used for evaluating goiters, nodules, or thyroid cancer, which ENT specialists manage.

Thyroid Antibody Test

To check for autoimmune thyroid disease.

Autoimmune Screening

Tests like Rheumatoid Factor (RF) or ANAs may be ordered for autoimmune related hearing loss or vertigo.

TSH (Thyroid Stimulating Hormone)

Often the first test used to check thyroid function.

Free T4 (Thyroxine)

Measures the main hormone produced by the thyroid.

Free T3 (Triiodothyronine)

Measures the active thyroid hormone.

Thyroid Antibodies (TPO, TgAb)

Detects autoimmune thyroid disease.

Bone Turnover Markers

Evaluates calcium/bone metabolism (e.g., PTH, CTX, PINP).

Autoantibody Panels

Used to identify autoimmune causes of endocrine dysfunction (e.g., Anti-TPO for Hashimoto's thyroiditis, GAD antibodies for type 1 diabetes)

FSH (Follicle-Stimulating Hormone)

Assesses fertility and pituitary function.

LH (Luteinizing Hormone)

Measures hormones that trigger ovulation or testosterone production.

Prolactin

Checks for high levels often related to pituitary tumors.

Estradiol/Estrogen

Key female hormone.

Testosterone (Total or Free)

Evaluates androgen levels in males and females.

AMH (Anti-Mullerian Hormone)

Measures ovarian reserve.

Cortisol (Morning or Random)

Assesses adrenal gland function in handling stress.

ACTH (Adrenocorticotropic Hormone)

Stimulates the adrenal glands.

DHEA-S (Dehydroepiandrosterone-sulfate)

An androgen hormone.

17-OH Progesterone

Used for diagnosing congenital adrenal hyperplasia.

HbA1c

Measures average blood sugar over 3 months.

HOMA - IR

Measures Insulin resistance in blood.

Fasting Blood Glucose

Measures current blood sugar.

Insulin

Measures insulin levels.

C-peptide

Assesses insulin production.

Parathyroid Hormone (PTH)

Monitors calcium regulation.

IGF-1 (Somatomedin C)

Evaluates growth hormone levels.

Vitamin D-3 (1,25-Dihydroxy-Cholecalciferol)

Often acts as a hormone to regulate calcium.

Multiplex PCR Respiratory Panels

Detects multiple viruses and bacteria simultaneously from swab or sputumsamples, including SARS-CoV-2, influenza A/B, RSV, rhinovirus, and Mycoplasma pneumoniae.

Xpert MTB/RIF / Xpert Ultra (GeneXpert)

Rapid nucleic acid amplification test (NAAT) to detect Mycobacterium tuberculosis and rifampicin resistance.

HUMAN METAPNEUMOVIRUS (HMPV) SCREENING

Usually causes symptoms similar to common cold. Less commonly it can cause Pneumonia, Asthma & flare up infection in old cases of Chronic obstructive pulmonary disease (COPD).

METAGENOMIC NEXT-GENERATION SEQUENCING (mNGS)

Sequences all nucleic acids in a sample to identify known, unknown, or unexpected pathogens.

LINE PROBE ASSAYS (LPA)

Molecular assays designed to detect drug resistance in TB, including INNO-LiPA and GenoType MTBDRplus/MTBDRsl.

MALDI-TOF Mass Spectrometry

Used for rapid identification of bacterial organisms by their proteomic profile.

MENINGOENCEPHALITIS PANEL - CSF

Works in a closed system by isolating, amplifying and detecting nucleic acid target genes found in the 14 organisms listed.

HUMAN ADENOVIRUS (HAdV) DNA DETECTION

A group of non-enveloped dsDNA viruses that frequently cause respiratory illness.

HYPERSENSITIVITY PNEUMONITIS

A complex syndrome resulting from repeated exposure to a variety of organic particles.

Autoimmune ILD Panels

Tests for antibodies such as ANCA (c-ANCA, p-ANCA), Anti-CCP, RF, and Myositis-specific antibodies (e.g., Anti-Jo-1).

Hypersensitivity Pneumonitis Panel

Identifies antibodies to various antigens that cause inflammatory lung disease.

Krebs von den Lungen-6 (KL-6)

A marker used to assess the severity of interstitial lung disease.

Alpha-1 Antitrypsin Deficiency Testing

Identifies genetic variations causing premature emphysema.

Fractional Exhaled Nitric Oxide (FeNO)

Measures airway inflammation, primarily used for asthma management.

Transcriptomic Profiling

Measures gene expression, such as IFI27, to distinguish viral from bacterial infection.

Metabolomics (VOCs)

Analyzes volatile organic compounds in exhaled breath to diagnose pneumonia.

Autoimmune Panels (ANA/ENA/dsDNA)

Identifies autoimmune causes of skin diseases like lupus.

Allergy Panels (IgE/RAST)

Measures IgE antibodies to identify triggers for eczema, hives, or dermatitis.

Hormonal Panels

Evaluates conditions like PCOS causing adult acne or hair loss, including tests for testosterone, DHEAS, and progesterone.

Nutritional/Deficiency Panels

Screens for deficiencies affecting skin and hair, such as ferritin (iron), Vitamin D, and Vitamin B12.

Inflammatory Markers (CBP/CRP/ESR)

Detects systemic inflammation.

Liver Function Tests (LFTs) & Lipid Profiles

Routinely checked for patients on isotretinoin (Accutane) for acne.

Kidney Function Tests (KFTs)

Evaluates kidney function.

Hormonal Profile

Often used for conditions like acne, hirsutism, or melasma (checking testosterone, estrogen, progesterone).

Allergy Testing (IgE)

Used to investigate chronic hives, eczema, or dermatitis.

Antinuclear Antibody (ANA) Test

Identifies autoimmune disorders like Lupus that can cause scarring alopecia or skin rashes.

Basic Hairfall Check

Usually includes TSH and CBC.

Essential/Advanced Hairfall Panels

Includes Ferritin, Vitamin D, Vitamin B12, Thyroid Profile, and Hormone panels (FSH, LH, Testosterone).

Complete Blood Count (CBC)

Measures red and white blood cells, hemoglobin, and platelets to check for anemia or infections that cause hair loss.

Ferritin/Iron Studies

Ferritin is a crucial test that measures iron stores; low levels are a leading cause of hair shedding (telogen effluvium) and hair thinning.

Thyroid Function Tests (TSH, T3, T4)

Thyroid imbalances (hypo- or hyperthyroidism) are commonly associated with diffuse hair thinning, breakage, and dry hair.

Vitamin D and B12

Essential for hair growth and follicle health; low levels often lead to hair shedding.

Hormonal Panels (Androgen Levels)

Used to check for hormone imbalances (such as high testosterone, DHEA-S, or abnormal FSH/LH levels) that contribute to Pattern Hair Loss (androgenetic alopecia) or PCOS. Zinc and Folate: Evaluated to rule out deficiencies that stop hair regrowth.

C-Reactive Protein (CRP) & ESR

Markers of inflammation used to identify autoimmune causes for hair loss or scalp inflammation.

Lipid Profile (Panel)

Measures total, LDL ("bad"), HDL ("good") cholesterol, and triglycerides to determine atherosclerosis risk.

High-Sensitivity Troponin

The gold standard for detecting heart muscle damage; elevated levels indicate a heart attack.

BNP or NT-proBNP

Measures proteins released by the heart when stretched or under stress, primarily used to diagnose or manage heart failure.

High-Sensitivity C-Reactive Protein (hs-CRP)

Assesses inflammation in the blood vessels, which indicates a higher risk of heart disease.

Homocysteine

An amino acid that can damage inner blood vessel walls and increase plaque formation.

Lipoprotein(a) / Lp(a)

A genetic form of LDL that can provide a more accurate cardiovascular risk assessment.

Apolipoprotein B (ApoB)

Often considered a better predictor of plaque formation and cardiovascular events than LDL alone.

Fibrinogen

A protein that helps blood clot; high levels can indicate increased risk of heart disease.

HbA1c (Hemoglobin A1c)

Measures average blood sugar levels over 2-3 months to detect diabetes, a significant contributor to heart disease.

Creatine Kinase-MB (CK-MB)

An enzyme test formerly used to detect heart damage, now largely replaced by troponin but still used in specific cases.

Complete Blood Count (CBC)

Measures red/white cells and platelets to identify anemia, infections, or inflammation.

Comprehensive Metabolic Panel (CMP)

Evaluates blood sugar, electrolytes, and liver/kidney function.

Vitamin B12 and Folate Levels

Crucial for diagnosing nerve damage (neuropathy) caused by deficiencies.

Thyroid Function Tests (TSH, T3, T4)

Checks for hyper/hypothyroidism, which can cause neurological symptoms like weakness or memory issues.

Inflammation Markers (ESR, CRP)

Detects inflammation in blood vessels or nervous system infections/autoimmune disease.

Autoimmune Antibody Tests

Identifies antibodies targeting nerves.

Infectious Disease Screenings

Tests for syphilis (VDRL), Lyme disease, HIV, or Hepatitis B/C.

HbA1c / Glucose

Used to detect diabetic neuropathy.

Heavy Metal Screening

Checks for toxicity (e.g., lead, mercury).

Neurofilament Light Chain (NfL)

A newer test detecting motor neuron damage or degeneration.

Liver Function Tests (LFTs)

Measures enzymes, proteins, and bilirubin to assess liver health.

Complete Blood Count (CBC)

Evaluates red/white blood cells and platelets to detect anemia, infection, or chronic inflammatio n.

Inflammatory Markers

Erythrocyte Sedimentation Rate (ESR) and C-reactive protein (CRP) are used to detect inflammation associated with Crohn's disease or ulcerative colitis.

Pancreatic Enzymes

Lipase and amylase tests check for pancreatitis.

Celiac Disease Panel

Tests for antibodies (e.g., anti-tTG, EMA) that indicate an immune reaction to gluten.

Helicobacter pylori (H. pylori) / Calprotectin Test

Detects antibodies or antigens related to stomach ulcers and gastritis.

Nutritional Panels

Measures levels of Vitamin B12, iron, and folate, often affected by malabsorption.

Common Gastrointestinal Conditions Diagnosed

Inflammatory Bowel Disease (IBD): Crohn's disease and ulcerative colitis. Liver Disease: Hepatitis and cirrhosis. Pancreatic Issues: Pancreatitis. Malabsorption Syndrome: Celiac disease. Infections: H. pylori and bacterial infections.

Estimated Glomerular Filtration Rate (eGFR)

The best measure of kidney function, calculating how well kidneys filter waste. An eGFR below 60 for 3+ months suggests Chronic Kidney Disease (CKD).

Serum Creatinine

Measures a waste product from muscle metabolism; high levels indicate poor clearance by the kidneys.

Blood Urea Nitrogen (BUN)

Measures urea nitrogen in the blood, which increases when kidneys are not functioning properly.

Electrolytes (Sodium, Potassium, Chloride)

Assesses the kidneys' ability to balance minerals. Elevated potassium is common in kidney failure.

Bicarbonate/CO2

Checks for metabolic acidosis (acid buildup).

Calcium and Phosphorus

Monitored to assess bone health in advanced kidney disease.

Common Accompanying Tests

Urine Albumin-to-Creatinine Ratio (UACR): Checks for albumin (protein) leaking into urine, an early sign of kidney damage. Hemoglobin/Hematocrit: Used to check for anemia, a common complication of CKD.

What Results Indicate

Normal: eGFR 100 or higher; Serum creatinine 0.74–1.35 mg/dL (men), 0.59–1.04 mg/dL (women). Abnormal: High creatinine/BUN and low eGFR (< 60) indicate CKD.

Prostate-Specific Antigen (PSA) Test

Measures the level of PSA in the blood to screen for prostate cancer, prostatitis, and benign prostatic hyperplasia (BPH).

Creatinine and Blood Urea Nitrogen (BUN) Tests

Assesses kidney function by checking for high levels of waste products that the kidneys might not be filtering properly.

Estimated Glomerular Filtration Rate (eGFR)

Measures how well the kidneys are filtering blood, providing a more detailed look at kidney function.

Testosterone Blood Tests

Used to evaluate erectile dysfunction, low libido, or other andrological issues in men.

Complete Blood Count (CBC)

Helps detect signs of infection or inflammation within the urinary tract.

Electrolyte Levels

Monitors levels of substances like potassium and sodium, which can be affected by kidney dysfunction.

Circulating Tumor DNA Test

A specialized test for early detection of urinary tract cancers.

Diagnosis & Screening

Identifying conditions like kidney diseases or prostate cancer early.

Monitoring Treatment

Checking the effectiveness of therapies for prostate cancer or other diseases.

Assessing Overall Health

Evaluating kidney health in patients with symptoms like hematuria (blood in urine).

C-Reactive Protein (CRP)

Measures acute inflammation.

Erythrocyte Sedimentation Rate (ESR)

Indicates general inflammation.

White Blood Cell Count (WBC)

Checks for infection.

Calcium & Phosphorus

Essential for bone structure.

Vitamin D (25-hydroxy vitamin D)

Crucial for bone density.

Alkaline Phosphatase (ALP)

Elevated with bone turnover or disease.

Parathyroid Hormone (PTH)

Regulates calcium levels.

125 OH VITAMIN D

Evaluates bone turnover and calcium regulation.

Rheumatoid Factor (RF)

Screens for Rheumatoid Arthritis.

Anti-Cyclic Citrullinated Peptide (Anti-CCP)

Specific for RA.

Antinuclear Antibody (ANA)

Used for autoimmune conditions like Lupus.

HLA-B27

Associated with ankylosing spondylitis.

Uric Acid

Used to diagnose gout.

Creatine Kinase (CK)

Detects muscle damage.

Liver & Kidney Function Tests (LFT/BUN/Creatinine)

Assesses overall metabolic health.

Thyroid Stimulating Hormone (TSH)

Evaluates thyroid-related joint issues.

Complete Blood Count (CBC)

Checks for anemia or infection.

Coagulation Studies (PT/INR/aPTT)

Checks blood clotting ability.

Erythrocyte Sedimentation Rate (ESR or "sed rate")

Measures inflammation speed.

C-Reactive Protein (CRP)

A liver-produced protein indicating inflammation.

Anti-nuclear Antibody (ANA)

Screens for autoimmune diseases like lupus, Sjögren's, and scleroderma.

Rheumatoid Factor (RF)

Antibody found in 70-80% of RA patients.

Cyclic Citrullinated Peptide (Anti-CCP)

Highly specific for rheumatoid arthritis.

Extractable Nuclear Antigen (ENA) Panel

Includes Anti-Smith, SSA/SSB, RNP, and Centromere for specific autoimmune conditions.

Double-Stranded DNA (dsDNA)

Specific for lupus.

HLA-B27

Genetic marker for ankylosing spondylitis and related conditions.

Complete Blood Count (CBC)

Checks for anemia and infection.

Comprehensive Metabolic Panel (CMP)

Evaluates liver (ALT/AST) and kidney (Creatinine) function, crucial for tracking medication side effects.

Complement (C3, C4)

Measures protein levels that can indicate active lupus.

Creatine Kinase (CK)

Assesses muscle damage in inflammatory muscle diseases.

GEN SEQUENCING: MATURITY ONSET DIABETES OF YOUNG (MODY)

Includes 31 genes

Gestational Diabetes Screening

Pregnant women are typically screened between 24 and 28 weeks using a Glucose Challenge Test (1-hour test). If results are high, a follow-up OGTT is used for confirmation.

DIABETES TYPE 1 AUTOIMMUNE PROFILE

*GAD-65 *Anti-IA2 *Insulin Autoantibody *Islet Cell Antibody *ZnT8 Autoantibody| INSULIN Abs

C-Peptide Test

Helps distinguish between Type 1 and Type 2 diabetes by measuring how much insulin the pancreas is producing.

ANTI IA-2; INSULINOMA ASSOCIATED ANTIGEN

Autoimmune marker for Type 1 Diabetes assessment.

FRUCTOSAMINE

This assay is useful to assess intermediate term glycemic control. Fructosamine reflects glycemic control in diabetic patients over the previous 2 to 3 weeks. High values indicate poor control.

GAD-65 (GLUTAMIC ACID DECARBOXYLASE- 65)

useful to diagnose Insulin dependent Diabetes mellitus (IDDM), to assess risk for development of IDDM, to predict onset of IDDM and risk of development of related endocrine disorders like Thyroiditis.

HOMA-IR ; INSULIN RESISTANCE INDEX

This assay is used to assess risk of developing diabetes and response to treatment with oral hypoglycemic agents.

Hormonal Panel

Used to assess PMS, infertility, irregular periods, and menopause. Includes follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, progesterone, and estradiol.

Anti-Mullerian Hormone (AMH)

Measures ovarian reserve (egg quantity) to assess fertility.

Thyroid Profile (TSH, T3, T4)

Checks for thyroid dysfunction which can cause infertility and menstrual irregularities.

Complete Blood Count (CBC)

Checks for anemia, commonly caused by heavy menstrual bleeding.

Infection Screening (STI Tests)

Blood tests for HIV, syphilis, and hepatitis B/C.

Tumor Markers (CA-125)

Used to check for potential ovarian cysts or cancers, often in conjunction with imaging.

Lipid Profile & Glucose

To check for diabetes and cardiovascular risks.

Vitamin D & B12

Essential to check for deficiencies affecting fertility and overall health.

Key Routine Pregnancy Blood Tests

CBC (Complete Blood Count): Measures hemoglobin to check for anemia and platelets. Blood Type and Rh Factor: Determines blood group (A, B, AB, O) and Rh status (+/-) to check for incompatibility. Prenatal Panel (Infectious Diseases): Tests for Syphilis (VDRL/RPR), Hepatitis B, HIV, and Rubella (German measles) immunity. Glucose Tolerance Test (GTT): Typically done in the second trimester (24-28 weeks) to screen for gestational diabetes. Thyroid Function Test (TSH): Monitors for thyroid health, which is crucial for fetal development.

GEN SEQUENCING- HEREDITARY MALE & FEMALE INFERTILITY PANEL

Infertility in couples can be due to inherited chromosomal defects such as deletion, inversion, translocation, aneuploidy as well as due to mutations in genes altering DNA sequence. Hereditary female infertility can be due to Cystic fibrosis, a condition in which cervical mucous is thickened, Kallmann syndrome & Primary ciliary dyskinesia. Hereditary male infertility can be due to Cystic fibrosis, a condition in which there can be congenital absence of vas deferens, Klinefelter's syndrome & Y-chromosome microdeletion. A total of 66 genes and the associated variants are analysed which are implicated in the causation / association with Heredit ary male and female infertility.

Targeted Diagnostic Panels

Fertility Panel: Typically includes AMH, FSH, LH, and Prolactin. PCOS Panel: Includes free testosterone, DHEA-S, fasting insulin, and LH/FSH ratio.

AUTOGEN PLUS PANEL

Chromosome Analysis (Karyotype), Lupus Anticoagulant , Cardiolipin Antibodies Panel IgA, IgG & IgM ,Phospholipid Antibodies Panel IgG & IgM , Beta 2 Glycoprotein 1 Panel IgA, IgG & IgM

SPERM DNA FRAGMENTATION

The sperm DNA fragmentation test checks for the integrity of the genetic material (DNA) in sperm.

First Trimester Screening/Quad Screen

Blood tests combined with ultrasounds to check for genetic abnormalities like Down Syndrome.

Noninvasive Prenatal Testing (NIPT)

Screens for chromosomal conditions.

Hormone Analysis

Evaluates ovarian reserve and menstrual cycle regulation, including AMH (ovarian reserve), FSH and LH (ovulation), TSH (thyroid function), Prolactin, and Estradiol.

Androgen Assessment

Measures Testosterone and DHEAS to identify conditions like PCOS (Polycystic Ovary Syndrome)

Semen Analysis

A critical test to check for sperm count, motility (movement), and morphology (shape).

Hormonal Evaluation

Tests to evaluate hormone levels related to sperm production.

Purpose

Used for diagnosing diseases, determining prognosis, assessing cancer treatment options (targeted therapy), and pred icting disease recurrence.

What it Detects

Identifies abnormalities in DNA, RNA, proteins, or genetic mutations (e.g., BRCA1/BRCA2, EGFR)

Oncology

Identifying specific mutations to determine cancer treatment, such as targetable biomarkers.

Infectious Diseases

Detecting viral/bacterial material (e.g., COVID-19, HPV, HPV tests).

Inherited Disorders

Screening for genetic mutations.

Techniques

Common methods include Polymerase Chain Reaction (PCR), which is highly sensitive, rapid microbiology tests (e.g., NGS), and FISH.

Types of Samples

Blood, tissue biopsies, or body fluids.

Karyotyping (Conventional Cytogenetics)

Analyzes the complete set of metaphase chromosomes to identify large numerical abnormalities (e.g., Down syndrome, 47,XX,+21) or large structural changes.

Fluorescence In Situ Hybridization (FISH)

Uses fluorescent probes to detect specific, small deletions, translocations, or amplifications of DNA, commonly used for cancer diagnosis (e.g., BCR-ABL1 in leukemia) and rapid prenatal diagnosis.

Chromosomal Microarray Analysis (CMA)

Detects small gains or losses of genetic material (copy number variations) too small to be seen with a microscope.

Key Applications

Prenatal Diagnosis: Performed on amniotic fluid or chorionic villus samples to check for fetal chromosomal abnormalities. Cancer Diagnosis & Prognosis: Analyzes blood or bone marrow in leukemia/lymphoma and solid tumors to identify abnormalities that dictate treatment protocols (e.g., chronic myeloid leukemia (CML) and B-cell lymphoma (14;18). Genetic Disorders: Tests for intellectual disabilities, autism spectrum disorder, and infertility (e.g., Prader Willi/Angelman syndrome or Turner syndrome.

GEN SEQUENCING: PRIMARY IMMUNODEFICIENCY DISORDERS

This panel evaluates 335 genes for suspected Primary Immunodeficiency Disorders (PID).

LEUCOCYTE ADHESION DEFICIENCY (LAD I & II)

Autosomal recessive immunodeficiency disorder that affects the leucocyte adhesion process and is associated with recurrent bacterial and fungal infections

Molecular Methods (PCR)

Real-time PCR is the primary tool for detecting specific viral nucleic acids (DNA or RNA) in samples like swabs or blood, allowing for high sensitivity and quantification of viral load.

Serological Assays

Viral antigens using methods like ELISA, western blot, or lateral flow assays.

EPSTEIN BARR VIRUS (EBV) ANTIBODY

Primary infection with Epstein–Barr virus causes infectious mononucleosis (usually self-limiting) but may be associated with lymphoproliferative disorders

Sequencing

Used to identify new variants or monitor for drug resistance, crucial for viruses like SARS-CoV-2 and HIV.

Virus Culture/Microscopy

Traditionally used to grow and view viruses, though now less common than molecular diagnostics.

Respiratory Infections

SARS-CoV-2 (COVID-19), influenza.

Blood-borne & Chronic Viruses

HIV, Hepatitis.

Congenital Infections

TORCH screening (Toxoplasma, rubella, cytomegalovirus, herpes simplex).

Gastrointestinal Infections

Rotavirus, Norovirus.