All Test List
| Tests | Method | |
| Consultation | ||
| Basic Studies | ||
| 1 | Sr. Ammonia, Lactate, Sugar | Dry Chemistry |
| 2 a | Sr. Free Fatty Acids | Color -imetry |
| 2 b | Sr. Free Fatty Acid + Beta Hydroxybutyrate | Color -imetry |
| 3 | Carnitine / Acyl-carnitine Profile | TMS |
| 4 | GC-MS of Urine (For Organic Acids) | GC- MS |
| 5 | Biotinidase enzyme in Serum | Color -imetric |
| 6 | HPLC – Urine : Orotic Acid | HPLC |
| 7 | HPLC Urine : Purine / Pyrimidines | HPLC |
| 8 | Plasma Aminoacids :(23AA) | UHPLC |
| 9 | Urine Aminoacids :(23AA) | UHPLC |
| 10 | CSF Aminoacids :(23 AA) | UHPLC |
| 11 | Plasma + Urine (or CSF) AA | UHPLC |
| Galactosemia Profile | ||
| 12 | GALT Enzyme | Fluo -rometry |
| 13 | Total Galactose | Color -imetric |
| 14 | TLC Sugar | TLC |
| 15 | Total Galactosemia Profile | |
| Homocysteine Profile | ||
| 16 | Sr. Homocysteine, Sr. Folic Acid, Sr. B12, Plasma Aminoacids, MTHFR Mutations | |
| Enzymes on DBS | ||
| 17 | ADA / PNP | |
| 18 | HPRT / APRT | |
| 19 | Plasma Pipecolic Acid | GC- MS/ SIM |
| 20 | CSF – Pipecolic Acid | GC- MS/ SIM |
| 21 | Urine AASA ( Ur must be sent frozen ) | UHPLC |
| 22 | Antiquitin Gene Studies (Performed in Europe) | |
| Special Quantitative Assays | ||
| 23 | Plasma : Argininosuccinic Acid - | UHPLC |
| 24 | Urine Argininosuccinic acid | UHPLC |
| 25 | Quantitation of MMA in Urine / Pl | GC-MS/ SIM |
| 26 | Quantitation of GA in Urine / Plasma | GC-MS/ SIM |
| 27 | Urine Mevalonic Acid Quantitation | GC-MS/ SIM |
| 28 | Quantitative Assay of Homogentisic Acid | GC-MS/ SIM |
| 29 | Quantitative Assay of Oxalic Acid | GC-MS/ SIM |
| Molybdenum Cofactor Deficiency | ||
| 30 | Urine Sulfites | |
| 31 | Urine Sulfocysteine | UHPLC |
| 32 | Plasma Sulfocysteine | UHPLC |
| 33 | Urine + Plasma Sulfocysteine | UHPLC |
| 34 | Gene Studies (MOCS1, MOCS2, GEPH, SUOX) | |
| Peroxisomal Disorder | ||
| 35 | Very Long Chain Fatty Acids (VLCFA) | GC-MS/ SIM |
| 36 | Plasmalogens in RBC | GC-MS/ SIM |
| Cholesterol Synthesis Defect | ||
| 37 | Plasma Sterols | GC-MS/ SIM |
| 38 | SLO Gene Studies (DHCR7) | |
| 39 | Urine Pterins or SF | UHPLC |
| 40 | DBS Pterins | UHPLC |
| 41 | DBS + Urine or CSF Pterins | UHPLC |
| 42 | DHPR Enzyme on DBS | |
| Folates and CSF – NT | Unit | |
| 43 | CSF – MTHF (Folates) | UHPLC |
| CSF – MTHF + CSF Pterins | ||
| 44 | CSF Neurotransmitters | |
| Lysosomal Storage Disorders | ||
| 45 | Urine MPS – GAG Quantitation, EPP and Oligosaccharides | TLC/ EPP |
| 46 | ||
| a | Iduronidase | Fluor -ometry |
| b | Iduronate Sulphatase | Fluor -ometry |
| c | N-acetylgalactosamine-6-sulfatase | Fluor -ometry |
| d | Beta Galactosidase | Fluor -ometry |
| e | Aryl Sulphatase B | Fluor -ometry |
| f | Beta Glucuronidase | Fluor -ometry |
| g | Aryl Sulphatase A | Fluor -ometry |
| h | Aryl Sulphatase A + B | Fluor -ometry |
| i | Hexosaminidase – Total and A | Fluor -ometry |
| j | Hexosaminidase – A | Fluor -ometry |
| k | Beta Glucosidase | Fluor -ometry |
| l | Alfa – Galactosidase | Fluor -ometry |
| m | Alfa – Glucosidase / Acid Maltase6 | Fluor -ometry |
| n | Alpha Mannosidase | Fluor -ometry |
| o | Beta Mannosidase | Fluor -ometry |
| p | Alpha Fucosidosis | Fluor -ometry |
| q | Sphingomylenase | Fluor -ometry |
| r | Chitotriosidase | Fluor -ometry |
| s | CCL – 18 | Fluor -ometry |
| Miscellaneous | ||
| 47 | CDG Screening ( Serum by IEF+ Urine) | IEF |
| 48 | CSF – IFN (Alfa Interferon) for AGS | |
| 49 | Leucocyte Cysteine | UHPLC |
| 50 | Gluten Sensitivity profile – AGA-IgG, IgA, Anti Endomyseal Ab-IgA and TTG | ELISA |
| Special Quantitative Assays | ||
| 51 | Sr. Hcy + B12 Levels | |
| 52 | Sr. Vit D | |
| Profiles | ||
| 53 | Critically ill Newborn Profile (Blood + Ur) | |
| 54 | Autism Profile (PCR for Fragile X Included) ( Karyotype Excluded) | |
| 55 | Metabolic Liver Profile | |
| 56 | Detailed Newborn Screening | |
| 57 | NBS + GC-MS of Urine | |
| 58 | Tyrosinemia Profile – AFP, PBG Synthase, Blood Succinyl Acetone, GC-MS of Urine, Urine Succinyl Acetone (Quantitation), Plasma Aminoacids - UHPLC, | |
| 59 | HLH Screening :- Sr. Triglycerides, Sr. LDH, Sr. ferritin and soluble CD25 | |
| 60 | Total Bile Acids and Sr. Ferritin | |
| 61 | Venous Blood Karyotype | |
| Total |
