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Metabolic & Genetic Disorder Advanced Package

Full Body

98 parameters

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Report in 24Hrs

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Details

Metabolic & Genetic Disorder Advanced Package covering Serum based metabolic and genetic markers, hormone, electrolytes, liver, kidney, lipid, iron, thyroid, sugar, diabetes, vitamins, blood, pancreas, cardiac markers and arthritis

₹3,556₹5,899

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Parameters

  • List of Tests
    • TMS Geno Serum
      • Tryptophan
      • Threonine
      • Histidine
      • Lysine
      • Valine
      • Arginine
      • Leucine
      • Methionine
      • Phenylalanine
      • Tyrosine
    • Testosterone
    • Serum Electrolyte
      • Na
      • K
      • Cl
    • Liver Function Test
      • Aspartic Acid
      • Beta-Alanine
      • Glutamine
      • Albumin
      • Alkaline Phosphatase
      • Bilirubin - Direct
      • Bilirubin - Indirect
      • Bilirubin - Total
      • AST/SGOT
      • ALT/SGPT
      • Total Protein
      • A/G Ratio
      • Gamma GT
      • Globulin
    • Kidney Profile
      • BUN
      • Calcium
      • Creatinine
      • Uric Acid
      • eGFR
      • BUN/Creatinine
      • Urea
    • Lipid Profile
      • Cholesterol/HDL
      • LDL/HDL
      • Non HDL
      • VLDL
      • Total Cholesterol
      • Triglycerides
      • HDL
      • LDL
    • Iron Studies
      • Iron
      • TIBC
      • Transferrin Saturation
      • Transferrin Serum
    • Thyroid Profile
      • Total T3
      • Total T4
      • TSH
    • HbA1c
    • eAG
    • Vitamin Profile
      • 25 OH Vitamin D
      • Folic Acid
      • Vitamin B12
    • CBC - Complete Hemogram
    • Pancreatic Profile
      • Tryptophan
      • Serine
      • Histidine
      • Amylase
      • Lipase
    • Cardiac Markers
      • Methionine
      • hs-CRP
      • Lipoprotein (a)
      • Apolipoprotein (A1)
      • Apolipoprotein (B)
      • Homocysteine
      • Apo B/Apo A
    • Arthritis Profile
      • RF
      • ASO
      • Calcium

Metabolic & Genetic Disorder Advanced Package

  • Why is it done?
    • Comprehensive screening for inborn errors of metabolism (IEMs) and genetic metabolic disorders affecting amino acid, organic acid, and fatty acid metabolism
    • Detection of amino acid imbalances through TMS Geno Serum (measuring tryptophan, threonine, histidine, lysine, valine, arginine, leucine, methionine, phenylalanine, and tyrosine) for conditions like phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria
    • Evaluation of organ function including liver, kidney, and pancreatic health to identify complications from metabolic disorders
    • Assessment of endocrine function through thyroid and testosterone profiling to evaluate secondary effects of metabolic disease
    • Comprehensive lipid and cardiovascular risk profiling to assess metabolic complications and atherosclerotic disease risk
    • Evaluation of glucose metabolism through HbA1c and eAG to screen for diabetes and metabolic syndrome
    • Assessment of nutritional status through vitamin B12, folate, vitamin D, and iron studies to identify deficiencies common in metabolic disorders
    • Screening for secondary complications including cardiac markers (homocysteine, lipoprotein(a), apolipoprotein levels) and systemic inflammation markers
    • Newborn screening and early identification of genetic metabolic disorders to enable early intervention and prevent neurological damage
    • Monitoring of patients with known metabolic disorders on dietary or pharmaceutical management
    • Investigation of unexplained developmental delay, failure to thrive, seizures, encephalopathy, or metabolic acidosis
    • Evaluation of hematologic complications through complete blood count to detect anemia, thrombocytopenia, or leukopenia secondary to metabolic disease
    • Assessment of pancreatic function through amylase and lipase measurement in patients with lipid metabolism disorders
    • Screening for autoimmune complications through arthritis profile (RF, ASO, calcium) in patients with metabolic disease
  • Normal Range
    • TMS Geno Serum Amino Acids (measured in µmol/L): Tryptophan (45-125), Threonine (90-240), Histidine (60-165), Lysine (100-280), Valine (120-330), Arginine (35-105), Leucine (90-240), Methionine (15-45), Phenylalanine (40-110), Tyrosine (40-130)
    • Testosterone: Males 300-1000 ng/dL (10.4-34.7 nmol/L); Females 15-70 ng/dL (0.5-2.4 nmol/L)
    • Serum Electrolytes: Sodium (Na) 136-145 mEq/L; Potassium (K) 3.5-5.0 mEq/L; Chloride (Cl) 98-107 mEq/L
    • Liver Function Tests: Aspartic Acid (5-40 µmol/L), Beta-Alanine (5-30 µmol/L), Glutamine (440-800 µmol/L), Albumin (3.5-5.0 g/dL), Alkaline Phosphatase (44-147 IU/L), Bilirubin-Direct (0.0-0.3 mg/dL), Bilirubin-Indirect (0.2-0.8 mg/dL), Bilirubin-Total (0.3-1.2 mg/dL), AST/SGOT (10-34 IU/L), ALT/SGPT (7-56 IU/L), Total Protein (6.0-8.3 g/dL), A/G Ratio (1.0-2.5), Gamma GT (Males 8-61 IU/L; Females 5-32 IU/L), Globulin (2.3-3.5 g/dL)
    • Kidney Profile: BUN (7-20 mg/dL), Calcium (8.5-10.5 mg/dL), Creatinine (Males 0.7-1.3 mg/dL; Females 0.6-1.1 mg/dL), Uric Acid (Males 3.5-7.2 mg/dL; Females 2.6-6.0 mg/dL), eGFR (>60 mL/min/1.73m²), BUN/Creatinine Ratio (10:1 to 20:1), Urea (2.5-7.1 mmol/L)
    • Lipid Profile: Total Cholesterol (<200 mg/dL optimal), HDL (>40 mg/dL males; >50 mg/dL females), LDL (<100 mg/dL optimal), VLDL (<30 mg/dL), Triglycerides (<150 mg/dL), Cholesterol/HDL Ratio (<5.0), LDL/HDL Ratio (<3.0), Non-HDL (<130 mg/dL)
    • Iron Studies: Iron (60-170 µg/dL), TIBC (250-425 µg/dL), Transferrin Saturation (20-50%), Transferrin Serum (200-360 mg/dL)
    • Thyroid Profile: TSH (0.4-4.0 mIU/L), Total T3 (80-200 ng/dL), Total T4 (4.5-12.0 µg/dL)
    • Glucose Metabolism: HbA1c (<5.7% normal; 5.7-6.4% prediabetic; >6.5% diabetic), eAG (<100 mg/dL normal corresponding to HbA1c <5.7%)
    • Vitamin Profile: 25-OH Vitamin D (30-100 ng/mL optimal), Folic Acid (5.4-16 ng/mL), Vitamin B12 (200-900 pg/mL)
    • Complete Blood Count (CBC): WBC (4.5-11.0 x10³/µL), RBC (Males 4.5-5.9 x10⁶/µL; Females 4.1-5.1 x10⁶/µL), Hemoglobin (Males 13.5-17.5 g/dL; Females 12.0-15.5 g/dL), Hematocrit (Males 41-53%; Females 36-46%), MCV (80-100 fL), MCH (27-33 pg), MCHC (32-36 g/dL), Platelets (150-400 x10³/µL)
    • Pancreatic Profile: Amylase (30-110 IU/L), Lipase (0-60 IU/L), Tryptophan (45-125 µmol/L), Serine (60-170 µmol/L), Histidine (60-165 µmol/L)
    • Cardiac Markers: Methionine (15-45 µmol/L), hs-CRP (<1.0 mg/L low risk; 1.0-3.0 mg/L moderate risk; >3.0 mg/L high risk), Lipoprotein(a) (<30 mg/dL optimal), Apolipoprotein A1 (120-200 mg/dL), Apolipoprotein B (50-130 mg/dL), Homocysteine (4-15 µmol/L), Apo B/Apo A1 Ratio (<0.9)
    • Arthritis Profile: Rheumatoid Factor (RF) (<14 IU/mL negative), Antistreptolysin O (ASO) (<200 IU/mL negative), Calcium (8.5-10.5 mg/dL)
  • Interpretation
    • TMS Geno Serum - Elevated amino acids: Phenylalanine >20 mg/dL (>1200 µmol/L) suggests PKU; Leucine elevation with isoleucine/valine elevation indicates MSUD; Methionine elevation may indicate homocystinuria or methionine adenosyltransferase deficiency; Histidine elevation suggests histidinemia
    • TMS Geno Serum - Decreased amino acids: Low arginine may indicate arginosuccinic aciduria or severe liver disease; Low glutamine suggests hepatic encephalopathy; Decreased phenylalanine may indicate atypical PKU variants; Low tryptophan correlates with severe malnutrition or metabolic stress
    • Testosterone - Elevated in females: Suggests polycystic ovary syndrome (PCOS), adrenal hyperplasia, or androgen-secreting tumors affecting metabolic function
    • Testosterone - Decreased in males: Indicates hypogonadism, metabolic syndrome, or secondary effect of severe systemic illness
    • Serum Electrolytes - Hyponatremia (<135 mEq/L): Suggests SIADH, adrenal insufficiency, or metabolic stress; hypernatremia (>146 mEq/L) indicates dehydration or impaired water intake
    • Serum Electrolytes - Hypokalemia (<3.5 mEq/L): Associated with metabolic alkalosis, diuretic use, or renal tubular acidosis; hyperkalemia (>5.1 mEq/L) indicates renal dysfunction or diabetic ketoacidosis
    • Liver Function Tests - Elevated AST/ALT (>40 IU/L): Indicates hepatocellular injury from metabolic disease, fatty liver disease (NAFLD), or mitochondrial dysfunction; ALT elevation more specific for hepatitis
    • Liver Function Tests - Elevated bilirubin (>1.2 mg/dL total): Total elevation suggests jaundice; direct >0.3 mg/dL indicates cholestasis or biliary disease; indirect elevation indicates hemolysis or Gilbert syndrome
    • Liver Function Tests - Low albumin (<3.5 g/dL): Indicates poor synthetic liver function, chronic liver disease, malnutrition, or proteinuria; suggests advanced metabolic derangement
    • Liver Function Tests - Elevated ALP (>147 IU/L): Suggests cholestasis, bone disease (rickets from metabolic disorders), or infiltrative liver disease
    • Kidney Profile - Elevated creatinine (>1.3 mg/dL males; >1.1 mg/dL females): Indicates renal dysfunction from metabolic disease, uric acid accumulation (in purine metabolism disorders), or dehydration
    • Kidney Profile - Elevated uric acid: Suggests gout risk, purine metabolism disorders, or secondary hyperuricemia from metabolic disease; associated with cardiovascular disease
    • Kidney Profile - Low eGFR (<60 mL/min/1.73m²): Stage 3a (45-59), 3b (30-44), 4 (15-29), 5 (<15) chronic kidney disease; indicates need for nephrology referral
    • Kidney Profile - Elevated calcium (>10.5 mg/dL): May indicate vitamin D toxicity, hyperparathyroidism, or immobilization; low calcium suggests hypoparathyroidism or vitamin D deficiency
    • Lipid Profile - Total cholesterol >200 mg/dL: Increases cardiovascular risk; associated with familial hypercholesterolemia, metabolic syndrome, or dietary excess
    • Lipid Profile - Low HDL (<40 mg/dL males; <50 mg/dL females): Major cardiovascular risk factor; associated with metabolic syndrome, low exercise, or genetic lipid disorders
    • Lipid Profile - Elevated LDL (>100 mg/dL): Atherogenic and increases atherosclerotic disease risk; more critical in diabetes or known cardiovascular disease
    • Lipid Profile - Elevated triglycerides (>150 mg/dL): Indicates hypertriglyceridemia; associated with metabolic syndrome, lipid metabolism disorders, or uncontrolled diabetes
    • Iron Studies - Low iron (<60 µg/dL): Indicates iron deficiency anemia; may result from chronic bleeding, malabsorption, or poor dietary intake in metabolic disorders
    • Iron Studies - Elevated iron (>170 µg/dL): Suggests hemochromatosis, chronic transfusions, or iron overload complications
    • Iron Studies - Low transferrin saturation (<20%): Indicates iron deficiency or chronic iron loss
    • Iron Studies - High transferrin saturation (>50%): Suggests iron overload or hemochromatosis
    • Thyroid Profile - Elevated TSH (>4.0 mIU/L): Indicates primary hypothyroidism; affects metabolic rate and can cause weight gain and fatigue
    • Thyroid Profile - Low TSH (<0.4 mIU/L): Indicates hyperthyroidism or secondary hypothyroidism; accelerates metabolism and causes weight loss
    • Thyroid Profile - Low T3 (<80 ng/dL): Suggests euthyroid sick syndrome in severe metabolic disease or primary hypothyroidism
    • Thyroid Profile - Low T4 (<4.5 µg/dL): Indicates hypothyroidism; impairs metabolic function and protein synthesis
    • HbA1c - 5.7-6.4%: Prediabetic range indicating impaired fasting glucose or glucose tolerance
    • HbA1c - >6.5%: Diagnostic for diabetes mellitus; >7% indicates suboptimal glycemic control
    • eAG conversion: Corresponds to HbA1c results; eAG 100-140 mg/dL is target range for most diabetic patients
    • Vitamin D (25-OH) - 20-29 ng/mL: Insufficient; increases risk of bone disease and immune dysfunction
    • Vitamin D (25-OH) - <20 ng/mL: Deficient; causes rickets in children and osteomalacia in adults; common in metabolic bone disease
    • Folic Acid - <5.4 ng/mL: Deficient; causes megaloblastic anemia and neurological complications; critical during pregnancy
    • Vitamin B12 - <200 pg/mL: Deficient; causes pernicious anemia, neuropathy, and neuropsychiatric symptoms
    • CBC - Elevated WBC (>11 x10³/µL): Suggests infection, inflammation, or leukemia
    • CBC - Low WBC (<4.5 x10³/µL): Indicates bone marrow suppression, autoimmune disease, or medication side effects
    • CBC - Low hemoglobin: Anemia; classified as microcytic, normocytic, or macrocytic based on MCV; associated with fatigue and reduced oxygen delivery
    • CBC - Low platelets (<150 x10³/µL): Thrombocytopenia; increases bleeding risk; associated with bone marrow disorders or sepsis
    • CBC - High platelets (>400 x10³/µL): Thrombocytosis; may indicate iron deficiency, malignancy, or reactive process
    • Pancreatic Profile - Elevated amylase (>110 IU/L): Suggests pancreatitis; lipase is more specific for pancreatic disease
    • Pancreatic Profile - Elevated lipase (>60 IU/L): More specific for acute pancreatitis; can occur secondary to hypertriglyceridemia
    • Cardiac Markers - Elevated homocysteine (>15 µmol/L): Independent cardiovascular risk factor; associated with thrombophilia and vascular disease
    • Cardiac Markers - Elevated hs-CRP: >3.0 mg/L indicates high inflammatory burden and increased cardiovascular event risk
    • Cardiac Markers - Elevated Lipoprotein(a) (>30 mg/dL): Genetic risk factor for premature atherosclerosis; independent of LDL
    • Cardiac Markers - Low Apolipoprotein A1 (<120 mg/dL): Reduces protective HDL capacity; increases cardiovascular risk
    • Cardiac Markers - Elevated Apolipoprotein B (>130 mg/dL): Associated with increased atherogenic particle burden
    • Cardiac Markers - High Apo B/Apo A1 Ratio (>0.9): Indicates unfavorable lipid profile and atherogenic dyslipidemia
    • Arthritis Profile - Positive Rheumatoid Factor (>14 IU/mL): Suggests rheumatoid arthritis or other autoimmune conditions; may complicate metabolic disease management
    • Arthritis Profile - Positive ASO (>200 IU/mL): Indicates recent or remote streptococcal infection; screens for post-streptococcal sequelae
  • Associated Organs
    • TMS Geno Serum and Amino Acid Metabolism: Tests evaluate central nervous system, liver, kidneys, and skeletal muscles; abnormalities may indicate neurological injury, developmental delay, seizures, encephalopathy, hypotonia, or hypertonia from metabolic aminoacidopathies
    • Testosterone: Evaluates hypothalamic-pituitary-gonadal (HPG) axis and reproductive function; abnormalities linked to metabolic syndrome, infertility, and systemic metabolic disease
    • Serum Electrolytes: Assess kidney, adrenal glands, and fluid-electrolyte homeostasis; critical for cardiac function and neurological stability
    • Liver Function Tests: Directly evaluate hepatic synthetic function, cholestasis, and hepatocellular injury; multiple metabolic disorders cause secondary fatty liver (NAFLD) or cirrhosis
    • Kidney Profile: Comprehensive evaluation of renal function, glomerular filtration, tubular function, and mineral metabolism; metabolic disorders commonly cause renal injury and stone formation
    • Lipid Profile: Assesses lipid metabolism disorders affecting liver (production), vasculature (atherosclerosis), and pancreas (acute pancreatitis risk)
    • Iron Studies: Evaluate bone marrow function, GI absorption, and iron-dependent metabolic processes; iron overload damages liver, heart, and endocrine organs
    • Thyroid Profile: Assesses thyroid gland function and metabolic rate regulation; thyroid dysfunction exacerbates metabolic disorders and affects growth and development
    • HbA1c and eAG: Evaluate pancreatic beta-cell function and glucose homeostasis; diabetes complicates metabolic disorders and increases cardiovascular complications
    • Vitamin Profile: Assess nutritional status and organ-specific complications; vitamin B12 deficiency causes neurological damage, folate deficiency causes neural tube defects, vitamin D deficiency causes bone disease
    • CBC: Evaluates bone marrow function, immune system status, and oxygen-carrying capacity; identifies complications of metabolic disease including hemolysis, infection susceptibility, and bleeding tendency
    • Pancreatic Profile: Directly evaluates pancreatic exocrine function; acute pancreatitis is serious complication of severe hypertriglyceridemia and lipid metabolism disorders
    • Cardiac Markers: Comprehensive cardiovascular risk assessment; metabolic disorders dramatically increase atherosclerotic disease, thrombosis, and sudden cardiac death risk through homocysteine elevation, dyslipidemia, and inflammation
    • Arthritis Profile: Screens for autoimmune and post-infectious complications; detects rheumatoid arthritis which may coexist with or complicate metabolic disease management
  • Follow-up Tests
    • TMS Geno Serum abnormalities: Tandem mass spectrometry (MS/MS) for expanded newborn screening panel to identify specific amino acid and organic acid disorders; urine organic acids analysis; plasma acylcarnitine profile; genetic sequencing for confirmed metabolic disorders
    • Elevated homocysteine or other amino acids: Methylenetetrahydrofolate reductase (MTHFR) genetic testing; cobalamin (B12) metabolic pathway testing; consider neuroimaging if neurological symptoms present
    • Testosterone abnormalities: Luteinizing hormone (LH) and follicle-stimulating hormone (FSH); free testosterone; prolactin; pelvic ultrasound in females with elevated androgens; testicular imaging in males with low testosterone
    • Electrolyte abnormalities: Acid-base status assessment; repeat electrolytes after intervention; evaluate for underlying adrenal insufficiency or renal disease
    • Abnormal liver function: Abdominal ultrasound or CT for fatty liver disease assessment; hepatitis serology; ceruloplasmin and copper studies for Wilson disease; retesting after 4-6 weeks; hepatology referral if progressive dysfunction
    • Abnormal kidney function: Renal ultrasound for structural abnormalities; urinalysis and 24-hour urine protein assessment; cystatin C for alternative GFR estimation; nephrology consultation if eGFR <30
    • Elevated uric acid: Urine uric acid and urine pH; urate oxidase testing; imaging for renal calculi; consider uric acid-lowering therapy; genetic testing for purine metabolism disorders (HGPRT deficiency, PRPP synthetase excess)
    • Abnormal lipid profile: Lipoprotein electrophoresis; advanced lipid testing (apolipoprotein B, particle size); genetic testing for familial hypercholesterolemia (LDLR, APOB, PCSK9 mutations); dietary intervention trial before pharmacotherapy
    • Iron metabolism abnormalities: Serum ferritin and iron saturation indices; genetic testing for hereditary hemochromatosis (HFE mutations); abdominal MRI for iron quantification; repeat testing after iron chelation therapy
    • Thyroid dysfunction: Free T3 and free T4; thyroid antibodies (TPO, thyroglobulin); thyroid ultrasound; genetic testing for thyroid hormone metabolism disorders
    • Elevated HbA1c: Fasting glucose; oral glucose tolerance test; C-peptide level; genetic testing for maturity-onset diabetes of the young (MODY); repeat HbA1c every 3 months initially, then every 6 months once controlled
    • Vitamin deficiencies: Methylmalonic acid and homocysteine levels for B12 evaluation; retinol-binding protein and prealbumin for nutritional assessment; gut permeability testing if malabsorption suspected; assess dietary intake and supplement accordingly
    • CBC abnormalities: Peripheral blood smear; reticulocyte count for hemolysis assessment; bone marrow biopsy if pancytopenia present; hemoglobin electrophoresis if anemia; flow cytometry if leukopenia
    • Pancreatic abnormalities: Pancreatic imaging (ultrasound or MRCP) for structural disease; fecal elastase for exocrine insufficiency; genetic testing for cystic fibrosis (CFTR) and other genetic pancreatic disorders
    • Cardiac risk abnormalities: Electrocardiogram and echocardiography; coronary calcium scoring; stress testing; advanced lipid profiling including particle number and size; consider cardiac MRI; cardiology referral for significant abnormalities
    • Elevated homocysteine: MTHFR genetic testing; vitamin B6, B12, and folate levels; consider genetic testing for cystathionine beta-synthase deficiency; renal function assessment; retesting after vitamin supplementation
    • Arthritis markers abnormalities: Anti-CCP antibodies; comprehensive metabolic panel; inflammatory markers (CRP, ESR); HLA-B27 testing; rheumatology referral if positive RF or symptoms present; monitor for disease progression
    • General monitoring recommendations: Repeat testing every 3-6 months for newly diagnosed metabolic disorders; annual screening for stable, managed conditions; more frequent monitoring (monthly) during acute illness or medication changes; maintain baseline for comparison
  • Fasting Required?
    • YES - Fasting Required: 8-12 hours overnight fasting is mandatory for this comprehensive metabolic panel to ensure accurate results
    • Specific fasting duration: Optimal fasting period is 10-12 hours overnight; may be performed with 8-hour minimum fasting but 12-hour preferred for lipid profile accuracy
    • Fasting restrictions: No food or beverages except water for 8-12 hours prior to blood draw; no coffee, tea, juice, or other caloric drinks
    • Lipid profile accuracy: Fasting is essential for triglycerides and VLDL measurement; postprandial triglyceride elevation can invalidate lipid risk stratification
    • Glucose measurement accuracy: Fasting state required for proper HbA1c and glucose interpretation; non-fasting state will artificially elevate glucose measurements
    • Medications to continue: Take routine medications with small amount of water unless specifically instructed otherwise by physician; medications affecting glucose metabolism should be discussed with healthcare provider
    • Medications to avoid: Avoid supplements containing amino acids or metabolites 24 hours before test; discontinue L-carnitine supplements 48 hours prior if possible; discuss herbal supplements with healthcare provider
    • Dietary preparation: Consume normal diet 2-3 days before test; avoid extremely high-fat or high-protein meals 24 hours prior; avoid alcohol 24-48 hours before blood draw as it affects lipids and liver function
    • Exercise restrictions: Avoid strenuous exercise 24 hours before test; light activity is acceptable; extreme exertion increases muscle enzymes (AST, CK) and affects various metabolic markers
    • Stress and sleep: Get adequate sleep (7-8 hours) before test; stress and poor sleep affect cortisol, inflammatory markers, and glucose metabolism
    • Hydration: Drink normal amount of water on morning of test; adequate hydration ensures better blood flow and accurate specimen collection; dehydration falsely elevates electrolytes and other analytes
    • Posture and positioning: Sit for 5 minutes before blood draw in seated position; avoid recent vigorous activity including climbing stairs; positioning affects hematocrit and certain analyte concentrations
    • Timing of blood draw: Preferably in morning hours (7-9 AM) when diurnal variations are minimal and specimens can be processed same day
    • Special considerations for patients on dietary therapy: Those on amino acid-restricted diets or medical foods should continue prescribed diet but fast from food 8-12 hours before testing; discuss specific timing with genetic counselor or metabolic specialist
    • Documentation requirements: Bring list of all current medications and supplements; note time of last meal and any deviations from fasting instructions; report any acute illness or recent infection which may affect results

How our test process works!

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