homeClinical GeneticsCytogeneticsMolecular GeneticsBiochemical GeneticsRelated Sites

Biochemical Genetics - Available Tests
  1. Cost of Tests
  2. General Information and Notes on Available Tests
  3. Further Information on Available Tests
  4. Repertoire of All Available Tests


Repertoire of All Available Tests

The following table lists the various diagnostic tests available from this Unit. Not listed are details of samples from newborn infants for PKU screening, which is carried out in this laboratory for the 'old North Western' Health Region and operates through the health visitors and midwives. The test which is carried out at 6-10 days by the tandem mass spectrometry method, also picks up certain other amino acid disorders. Listed below is the code used for different types of sample for investigation; the necessary volumes are shown for individual tests. Turnaround times and reference ranges are given where appropriate.
EDTA =EDTA Blood       HEP =Heparanised Blood
P =Plasma U =Urine
CC =Cultured Skin Fibroblasts L =Liver
CSF =Cerebrospinal fluid AF =Amniotic Fluid
AFC =Cultured Amniotic Fluid Cells CVS =Chorionic Villus Sample
CCV =Cultured Chorionic Villi
 
If further details are required please do not hesitate to contact the laboratory. Tissue culture costs will have to be added separately where cultured cells are required.

ALL REQUESTS MUST GIVE AGE, SEX, CLINICAL DETAILS AND RELATED THERAPY

All samples should be accompanied by relevant clinical details. This is especially so for urine amino acids. Reports will not be sent out where samples are received without clinical details as an accurate interpretation is not always possible without them.
Group  Subgroup  Test  Required Specimen & Volume   Special Precautions  Turnaround Time  Reference Ranges  Section 
CARBOHYDRATE DISORDERS     Sugar Chromatography   5ml U   None   3 working weeks   Qualitative   Amino and organic acids  
 
CARBOHYDRATE DISORDERS     alpha-glucosidase
Pompe (GSDII) 		  5ml EDTA   Must reach laboratory within 48 hours   1 working week   2 - 10 µmol/g.h.   Lysosomal  
 
CARBOHYDRATE DISORDERS     Beutler Test
Galactosaemia 		  0.5 ml HEP   Must reach laboratory within 24 hours   1 working week   Qualitative   Amino and organic acids  
 
CARBOHYDRATE DISORDERS     Galactose-1-phosphate
Galactosaemia monitoring 		  5ml HEP   Must reach laboratory within 24 hours   3 working weeks   5 -10 µg/ml packed red cells   Amino and organic acids  
 
CARBOHYDRATE DISORDERS     Galactosaemia mutations   See DNA         DNA  
 
CARBOHYDRATE DISORDERS     Hereditary fructose intolerance   See DNA         DNA  
 
AMINO ACID DISORDERS     2-D TLC
(see notes about relevant clinical details)
  5ml U, no preservative   None   3 working weeks   Qualitative   Amino and organic acids  
 
AMINO ACID DISORDERS     Quantitative amino acids   3ml HEP   Must be sent on ice or deproteinised with internal standard   3 working weeks   Quoted on report   Amino and organic acids  
 
AMINO ACID DISORDERS     White cell cystine
Cystinosis 		  5ml HEP   Must be sent immediately on ice   3 working weeks   < 0.1-0.2 nmole cyst / mg protein   Amino and Organic acids  
 
AMINO ACID DISORDERS     Pterins
PKU Variants 		  U   Contact lab prior to collection. Special conditions apply.   4 weeks   Age-dependent, quoted on report   Metabolites  
 
AMINO ACID DISORDERS     Orotic acid
Urea cycle defects 		  2ml U   None   4 weeks   < 5 µmol / mmol creatinine   Metabolites  
 
AMINO ACID DISORDERS     14C-citrulline incorporation
Citrullinaemia and arginosuccinic aciduria 		  CC, AFC, CCV   Contact lab prior to dispatch to discuss test   Dependent on culture time   Controls quoted   Tissue culture  
 
AMINO ACID DISORDERS     14C-leucine oxidation
Maple syrup urine disease 		  CC, AFC   Contact lab prior to dispatch to discuss test.   Dependent on culture time   Controls quoted   Tissue culture  
 
AMINO ACID DISORDERS     14C-methionine synthesis
Homocystinuria remethylation 		  CC, AFC, CCV   Contact lab prior to dispatch to discuss test.   Dependent on culture time   Controls quoted   Tissue culture  
 
ORGANIC ACID DISORDERS     Organic acids by GC-MS   5ml U   Full drug history   3 working weeks   Qualitative   Amino and organic acids  
 
ORGANIC ACID DISORDERS     Pyruvate carboxylase   CC, AFC, CCV, CVS   Contact lab prior to dispatch to discuss test.   Dependent on culture time   Fibroblasts 6-40 nmol/h/mg   Tissue culture  
 
ORGANIC ACID DISORDERS     Propionyl-CoA carboxylase
Propionic aciduria 		  CC, AFC, CCV, CVS   Contact lab prior to dispatch to discuss test.   Dependent on culture time 1-2 months   40-100nmol/h/mg (fibroblasts)   Tissue culture  
 
ORGANIC ACID DISORDERS     Methylmalonyl-CoA mutase
Methymalonic aciduria 		  CC, AFC, CCV, CVS   Contact lab prior to dispatch to discuss test.   Dependent on culture time 2-4 months   Fibroblasts 207-1730 pmol/min/mg   Tissue culture  
 
ORGANIC ACID DISORDERS     14C-propionate incorporation
Propionic and methylmalonic aciduria defects in B12 Metabolism 		  CC, AFC, CCV, CVS   Contact lab prior to dispatch to discuss test.   Dependent on culture time 2-4 months   Ref. values quoted   Tissue culture  
 
ORGANIC ACID DISORDERS     Methylcrotonyl-CoA carboxylase   CC, AFC, CCV   Contact lab prior to dispatch to discuss test.   Dependent on culture time   2.5-12nmol/h/ mg (fibroblasts)   Tissue culture  
 
ORGANIC ACID DISORDERS     HMG-CoA lyase
3-hydroxy 3-methylglutaric aciduria 		  CC, AFC, CCV   Contact laboratory prior to dispatch to discuss test.   Dependent on culture time   0.52-3.96nmol/ min/mg protein   Tissue culture  
 
ORGANIC ACID DISORDERS     Biotinidase
Multiple carboxylase deficiency 		  2-3ml HEP   To reach lab within 24 hours   2 working weeks   Plasma 4-12nmol/min/ml   Amino and organic acids  
 
ORGANIC ACID DISORDERS     Acyl carnitines
(Includes free carnitine) 		  1ml HEP or dried blood spot   None   3 working weeks   Free carnitine 20-40µM, values quoted for specific acyl carnitines   Metabolites  
 
ORGANIC ACID DISORDERS     MCAD and LCHAD mutations   See DNA         DNA  
 
LYSOSOMAL STORAGE DISEASES     Lysosomal enzyme screen
17 different lysosomal storage disorders 		  5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   See individual enzymes   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Mucopolysaccharidoses   2-D electrophoresis of GAGs
Mucopolysaccharidoses 		  5-10ml fresh U, 10ml AF   None   3 working weeks   Qualitative   Lysosomal / MPS  
 
LYSOSOMAL STORAGE DISEASES   Mucopolysaccharidoses   Oligosaccharide screen   2-3ml U   To reach the laboratory within 72 hours   3 working weeks   Qualitative   Lysosomal / MPS  
 
LYSOSOMAL STORAGE DISEASES   Mucopolysaccharidoses   Quantitative sialic acid
Sialic acid storage disease, Sialidosis, Galactosialidosis 		  2-3ml U, CC, AFC, CCV, white cells. Age of patient must be specified  To reach the laboratory within 72 hours   4 weeks   Age-matched controls quoted   Lysosomal / MPS  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   alpha-iduronidase
MPS I, Hurler syndrome, Scheie syndrome, Hurler/Scheie syndrome 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   2 working weeks.   White cells10 -50 µmol/g.h Other tissues, assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Iduronate sulphatase
MPS II, Hunter syndrome 		  2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   Assay control values quoted   Lysosomal / MPS  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Heparan sulphamidase
MPS IIIA Sanfilippo A syndrome 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   Assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   alpha-N-acetylglucosaminidase
MPS IIIB Sanfilippo B syndrome 		  2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks time   Assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Acetyl-CoA:alpha-glucosaminide N-acetyltransferase
MPS IIIC Sanfilippo C syndrome 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   Assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Galactose-6-sulphatase
MPS IVA Morquio syndrome 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks.   Assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   beta-galactosidase
MPS IVB, Morquio syndrome & GM1-gangliosidosis 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks.   White cells 100-400 µmol/g.h. Other tissues assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Arylsulphatase B
MPS VI Marateaux-Lamy syndrome 		  10ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks.   Assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   beta-glucuronidase
MPS VII Sly's syndrome 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks.   White cells 100 - 800 µmol/g.h. Other tissues assay control values quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   MPS enzyme assays   Multiple sulphatases
Multiple sulphatase deficiency 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   See individual sulphatase values for white cells, other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Aspartylglucosaminidase
Aspartylglucosaminuria 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks.   Plasma 10 - 60 µmol/l.h. Other tissues, assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   N-acetyl alpha-neuraminidase
Sialidosis 		  CC, AFC, CCV.   To reach the laboratory within 72 hours   3 working weeks following completion of culture   Assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   alpha-fucosidase
Fucosidosis 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 50 - 200 µmol/g.h. Other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   alpha-mannosidase
alpha-Mannosidosis 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 100 - 800 µmol/g.h. Other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   beta-mannosidase
beta-Mannosidosis 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   Plasma 200-1500µmol/l.h. Other tissues, controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Multiple hydrolases
ML II & III 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   2 working weeks   See other plasma hydrolase assays   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   beta-hexosaminidase A
(MUGS)
Tay-Sachs disease 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   2 working weeks   Plasma 50 - 200 µmol/l.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   beta-hexosaminidase A & B
Sandhoff disease 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   2 working weeks   Plasma 600- 3500 µmol/l.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Galactocerebrosidase
Krabbe leucodystrophy 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 0.4 - 4 µmol/g.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Arylsulphatase A
Metachromatic leucodystrophy 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 50 - 200 µmol/g.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   alpha-galactosidase
Fabry disease 		  5ml EDTA, 2ml P, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   1 working week   Plasma 3 - 20µmol/l.h.white cells 10 -50 µmol.g.h., other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   beta-glucosidase
Gaucher disease 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 1-5µmol/g.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Chitotriosidase
Marker for some lysosomal storage disorders, monitoring Gaucher patients on treatment 		  5ml EDTA, 2 ml P   To reach the laboratory within 72 hours   2 working weeks   4 - 80 µmol/l.h.   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   N-acetyl-alpha-galactosaminidase
Schindler disease 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 15-70 µmol/g.h.. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Sphingomyelinase
Niemann-Pick A and B 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 1 - 8 µmol/g.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Acid esterase
Wolmans disease and cholesteryl ester storage disease 		  5ml EDTA, CC, AFC, CCV, CVS   To reach the laboratory within 72 hours   3 working weeks   White cells 350 - 2000 µmol/g.h. other tissues assay controls quoted   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Filipin staining (Cholesterol esterification)
Niemann-Pick C 		  CC   None   2 working weeks after culture   Qualitative   Lysosomal  
 
LYSOSOMAL STORAGE DISEASES   Other enzyme assays   Transferrin electrofocusing
Carbohydrate-deficient glycoprotein disorders 		  1ml clotted blood   To reach the laboratory within 48hours   4 working weeks   Qualitative   Other  
 
PEROXISOMAL DISORDERS     Very Long Chain Fatty Acids
General peroxisomal disorders, VLCFA oxidation defects and X-linked ALD 		  5ml EDTA or 2ml P   To reach the laboratory within 72 hours   4 working weeks   C26 / C22 < 0.033
C24 / C22 0.65 - 1.05 		  Peroxisomal  
 
PEROXISOMAL DISORDERS     Phytanic and Pristinic acids
Refsum disease, RCDP and other peroxisomal disorders 		  5ml EDTA or 2ml P   To reach the laboratory within 72 hours   4 working weeks   <16umol/L   Peroxisomal  
 
PEROXISOMAL DISORDERS     Plasmalogens
RCDP and general peroxisomal disorders 		  5ml EDTA   To reach the laboratory within 72 hours   2 months   Ref. values quoted   Peroxisomal  
 
MITOCHONDRIAL DISORDERS     Mitochondrial DNA Mutation screen
MELAS (3243)
MERRF (8344)
NARP (T8993C/G)
mtDNA deletion screen 		  5ml EDTA   Contact laboratory about muscle analysis   4 working weeks   Qualitative   DNA  
 
MITOCHONDRIAL DISORDERS     Mitochondrial cardiomyopathy screen
CM (3260)
MIC (3303)
MELAS (3271) 		  5ml EDTA   Contact laboratory about muscle analysis   4 working weeks   Qualitative   DNA  
 
MITOCHONDRIAL DISORDERS     LHON mutation screen
11778, 3460, 14484
Leber's Hereditory Optic Neuropathy 		  5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   DNA  
 
OTHER DISORDERS     Arylsulphatase C
(Steroid sulphatase)
X-linked Ichthyosis 		  5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   In-assay controls quoted   Lysosomal  
 
OTHER DISORDERS     7-dehydrocholesterol
Smith-Lemli-Opitz syndrome 		  2ml EDTA   None   4 working weeks   <10µmol/L   Metabolites  
 
DNA MUTATIONS     Galactosaemia
(Q188R) 		  5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     Hereditary fructose intolerance
(A149P) 		  5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     MTHFR (677C > T)   5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     MCAD (A985G)   5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     LCHAD (1528G>C)   5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     mtDNA (see mitochondrial disorders)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     Mitochondrial deafness
(1555 A>G) 		  5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     Krabbe (common deletion)   5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     Niemann-Pick A/B
(sequencing) 		  5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   DNA  
 
DNA MUTATIONS     Niemann-Pick C (I1061T)   5ml EDTA   To reach the laboratory within 72 hours   3 working weeks   Qualitative   DNA  
 
DNA MUTATIONS     Niemann-Pick C1
(sequencing) 		  5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   DNA  
 
DNA MUTATIONS     Niemann-Pick C2 (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   DNA  
 
DNA MUTATIONS     GSD1a (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   DNA  
 
DNA MUTATIONS     GSD 1b (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   DNA  
 
DNA MUTATIONS     Fabry (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     Gaucher (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     Gaucher (common mutation screen)   5ml EDTA   To reach the laboratory within 72 hours   8 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     Gaucher sequencing   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     I-cell (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     I-cell (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS I (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS I (common mutation screen)   5ml EDTA   To reach the laboratory within 72 hours   8 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS I (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS II (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS II (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IIIA (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IIIA (common mutation screen)   5ml EDTA   To reach the laboratory within 72 hours   8 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IIIA (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IIIB (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IIIB (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IVA (specific mutation)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     MPS IVA (sequencing)   5ml EDTA   To reach the laboratory within 72 hours   Up to 6 months   Qualitative   Lysosomal  
 
DNA MUTATIONS     VNTR (screen prior to bone marrow transplant)   5ml EDTA   To reach the laboratory within 72 hours   4 working weeks   Qualitative   Lysosomal  
 
DNA MUTATIONS     VNTR (transplant monitoring)   5ml EDTA   To reach the laboratory within 72 hours   2 working weeks   Qualitative   Lysosomal  
 
TISSUE CULTURE     Initiation of culture   Skin biopsy, amniocytes or CVS   To reach the laboratory within 48hours   Dependent on cell growth   NA   Tissue Culture  
 
TISSUE CULTURE     Maintenance of cultures initiated elsewhere   CC, AFC, CCV   To reach the laboratory within 48hours   NA   NA   Tissue Culture  
 
TISSUE CULTURE     Cryogenic storage in cell bank   NA   NA   NA   NA   Tissue Culture  
 
DNA MUTATIONS     FIRST TRIMESTER PRENATAL DIAGNOSIS
Always contact laboratory prior to sampling 		  CVS   To be transported in culture medium, at room temperature and to reach the laboratory within 72 hours.   Dependent on assay needed. Up to 2 working weeks. Many assays will be within 72 hours of receipt. Check with lab for reporting time expected for individual assays.   Dependent on analysis. Control values included in the analysis are quoted.   Various.