Sr. |
CYTOGENETICS INVESTIGATION |
REPORTING |
| TIME |
1 |
Blood Lymphocyte Culture |
2-3 weeks |
2 |
Abortus Chromosome Study |
4 weeks |
3 |
Bone Marrow For Cancer Genetics |
1 week |
4 |
Chorionic Villus Study |
2-3 weeks |
5 |
Amniotic Fluid Culture |
2 weeks |
6 |
Skin Fibroblast |
3 weeks |
7 |
Fragile – X Study |
4 weeks |
8 |
Cord Blood Abortus |
3 weeks |
9 |
Cord Blood Prenatal |
1 weeks |
10 |
Chromosome Breakage Syndrome |
4 weeks |
11 |
BCR/ABL Translocation Dual color dual fusion |
1 week |
12 |
CEP. 8 |
1 week |
13 |
DiGeorge syndrome |
1 week |
14 |
XX/XY ratio: for sex mismatched bone marrow transplant |
1 week |
15 |
WCP-21 |
1 week |
16 |
Prader Villi/Angelman syndrome |
1 week |
17 |
Duplication on Chromosome 15 for Autism |
1 week |
18 |
Charcot Marie Tooth Syndrome – PMP22 duplication study by FISH |
4 weeks |
19 |
Prenatal Diagnosis of Trisomy 21, 18 and 13 |
72 hours |
20 |
CGH Array study for Dysmorphic child |
4–6 weeks |
21 |
Marker Chromosome Characterization by FISH, SKY |
4–6 weeks |
22 |
COMET Assay |
2–3 weeks |
Sr. |
INVESTIGATION |
REPORTING
|
| TIME |
1 |
Urine For Metabolic D/O With Paper Chromatography |
2 day |
2 |
Urine For MPS Study (GAG Quantitative) |
1 day |
3 |
Urine For Sugar by TLC |
2 day |
4 |
Urine for GC/MS |
10 days |
5 |
Tendom Mass Spetroscopy (TMS) (Blood Spot) |
10 days |
6 |
Galactose-Dehydrogenase
(Galactosemia) |
1 day |
7 |
Galactose-1-Phosphate-Uridyl Transferase |
1 day |
| 8 |
Lactate/Pyruvate/Amonia
(For Pyru.Decarboxylase Def. Type A & B Mitochondrial Dis. |
1 day |
9 |
Triple Marker Screening For Downs Syndrome,Trisomy Of 13,18 & 21 AFP,HCG & Estriol |
1 day |
10 |
Double Marker Screening In 1 st Trimester |
1 day |
11 |
Only AFP (NTD’s) |
1 day |
12 |
Ceruloplasmin (Wilson Disease) |
1 day |
13 |
Amniotic fluid – 17-OH-Progesterone |
3 days |
Sr. |
LYSOSOMAL ENZYMES |
REPORTING |
| TIME |
1 |
I-cell Screeening in plasma |
2 days |
2 |
I-Cell Study in plasma |
1 week |
3 |
Plasma Chitotriosidase for screening of LSDs |
2 days |
4 |
MPS Screening by GAG Electrophoresis (GAG Qualitative) |
1 week |
|
MUCOPOLYSACCHARIDOSIS |
|
5 |
Alpha- Iduronidase
(Hurler Syndrome, MPS I) |
1 week |
6 |
Alpha- Iduronate Sulphate
(Hunter Syndrome- MPS II) |
4–6 weeks |
7 |
Plasma N- Acetyl- A- D- Glucosaminidase (Sanfilippo Syndrome, MPS IIIB) |
1 week |
8 |
Beta-Galactosidase-6-Sulphate-Sulphatase
(Morquio Syndrome, MPS IVA) |
1 week |
9 |
Beta - Galactosidase
(Morquio Syndrome, MPS IVB & GM1 Gangliosidosis) |
1 week |
10 |
Arylsulfatase B
(Martoteaux- Lamy Syndrome, MPS VI) |
1 week |
11 |
Beta- Glucuronidase
(Sly Syndrome, MPS VII) |
1 week |
12 |
Enzyme study for MPS only |
2 weeks |
|
GLYCOPROTEINS DEGRADATION |
|
13 |
Alpha- Fucosidase
(Fucosidosis) |
1 week |
14 |
Alpha- Mannosidase
(Mannosidosis) |
1 week |
|
GLYCOLIPIDS AND LIPIDS |
|
15 |
Hexosaminidase (Total)
(GM 2 Gangliosidosis) |
1 week |
16 |
Hexosaminidase (A)
(GM 2 Gangliosidosis) |
1 week |
17 |
Sphingomyelinase
(Niemann Pick Disease A & B) |
1 week |
18 |
Beta - Glucosidase
(Gaucher's Disease) |
1 week |
|
SULPHATIDES |
|
19 |
Arylsulfatase A
(Metachromatic Leucodystrophy, MLD) |
1 week |
20 |
Beta-Galactocerebrosidase
(Krabbe Disease) |
1 month |
|
GLYCOGEN STORAGE |
|
21 |
Alpha - 1,4 Glucosidase
(Pompe Disease, GSD II) |
1 week |
|
GLOBOTRIAOSYLCERAMIDE |
|
22 |
Alpha - Galactosidase
(Fabry's Disease) |
1 week |
23 |
Sialic Acid (Total & Free)
(Sialic Acid Storage Disorder) |
3 days |
24 |
Palmitoyl protein thioesterase (PPT)
(NCL1 for Batten Disease) |
1 week |
25 |
Tripeptidyl Peptidase 1 (TPP1)
(NCL2 for Batten Disease) |
1 week |
26 |
Fibroblast study for Niemann-Pick – C |
4 weeks |
27 |
Prenatal diagnosis of known LSD’s |
4 weeks |
28 |
Total Lysosomal Enzyme study of 14 Tests |
2 weeks |
Disease |
Reporting |
| Time |
| Beta -Thalassemia |
| Seven common mutations (IVS 1-5 G>C, IVS 1-1 G>T, 619 bp deletion, Codon 15 G>A, Codon 30 G>A, FS 41/42 - CTTT),Fs 8-9 – From blood |
2–4 weeks |
| Screening for specific mutation (as per the request of doctor) – From Blood |
4 weeks |
| Detection of novel mutation (by sequencing) |
4 weeks |
| Prenatal Diagnosis (Parents and CVS or AF) |
3–4 weeks |
Prenatal Diagnosis of known mutations (Parents and CVS) |
1 week |
| Sickle Cell Anemia |
10 days |
Hemoglobin-E Disease (Prenatal Diagnosis) |
10 days |
Duchenne and Becker Muscular Dystrophy
Deletion analysis for 24 exons
|
|
| 2 weeks |
| Deletion and Duplication study |
2 weeks |
Carrier analysis
Using intragenic markers ( Intron 3, 44 and 49) |
|
| 4 weeks |
| Prenatal Diagnosis of DMD (Parents and CVS or AF) |
4 weeks |
Spinal Muscular Atrophy
Deletion analysis (exon 7 & 8 only) |
|
| 2 weeks |
| Carrier analysis using Q-PCR (exon 8 only) |
4 weeks |
| Prenatal Diagnosis of SMA
(CVS or AF) |
2–3 weeks |
Fragile-X Syndrome
Southern Blot based analysis for FRA-XA locus |
|
| 4 weeks |
Myotonic Dystrophy
Southern Blot based analysis |
|
| 4 weeks |
| Triplet Repeat Expansion Associated Diseases |
| Huntington’s Disease, |
2 weeks |
Spinocerebellar Ataxias 1, 2, 3 and 6, DRPLA, Friedrich’s Ataxia (Ataxia Panel) |
4 weeks |
Hemophilia-A
Intron-22 inversion by Southern Blot analysis |
|
| 4 weeks |
| Carrier analysis @ intragenic markers (BclI, Xbal, In 13 & 22) |
3 weeks |
Hemophilia-B
Carrier analysis @ intragenic markers (Hhal, Ddel, TaqI) |
|
| 3 weeks |
Chronic Pancreatitis (N34S SPINK 1 mutation) |
10 days |
| Cystic Fibrosis (CF) |
Delta F508 mutation – From blood |
10 days |
| Four common mutations ( d F508, G542X, G551D, R553X) |
2 weeks |
Prenatal Diagnosis of CF |
4 weeks |
| G6PD deficiency |
| Orissa, Mediterranean and Kerala-Kalyan mutations |
2 weeks |
| Pre-coagulation profile |
| Factor V Leiden and Prothrombin (G20210A) mutation |
2 weeks |
| MTHFR gene polymorphisms |
| 677T>C and 1298A>C mutations |
2 weeks |
| Hereditary Haemochromatosis |
| H63D and C282Y mutations |
2 weeks |
| Mitochondrial encephalopathy |
| LHON – 3 mutations (G3460A, G11778A, T14484C) |
3 weeks |
Leigh’ disease – 3 mutations (T12706C, A13084T, G13513A)
Specific mutation (as per the request of referring doctor) |
|
| 3 weeks |
| Non-Syndromic Hearing Loss (NSHL) |
|
| Connexin 26 (GJB2)exon 2 screening (by sequencing) |
4 weeks |
| DNA Isolation and Storage upto two years |
1 week |
Maternal cell contamination Study |
3-7 days |
| Occulocutaneous Albinism |
|
OCA1 Gene study |
4 weeks |
RETT mutation for MECP2 gene |
3 weeks |
| TGM1 mutation for Lamellar Icthyosis |
3 weeks |
| PATERNITY TEST (Three Individuals) |
3 weeks |
HLA – B – 27 |
1 week |
Tb by PCR |
1 week |
Alexandra Disease Sequence Analysis (8 exon study) |
8 weeks |
