| Consultation |
| Basic Studies |
| 1 | Sr. Ammonia, Lactate, Sugar | Dry Chemistry |
| 2a | Sr. Free Fatty Acids | Color -imetry |
| 2b | 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 / Plasma | 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 |
| 43 | CSF – MTHF (Folates) | UHPLC |
| 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 |
