Genomics

Genomics

SL. NoNAL CODETEST- CODETEST NAMEDEPARTMENTTEST CATEGORYTEST METHODOLOGYTEST COMPONENTSSPECIMEN TYPE/ VOLUME / CONTAINERCOLLECTION INSTRUCTIONSSPECIMEN STABILITYSCHEDULECUT-OFFTATMRP in INR.REQUISITIONS AND CLINICAL PREREQUISITESACCREDITATION/QUALITY ASSUARANCE STATEMENT
1Single gene analysis via NGSGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days15000TRF Mandatory & G-Form in case of prenatal SAMPLE
2ORION (Whole Exome)Genomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days22000TRF Mandatory & G-Form in case of prenatal
3ORION FocusGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days16000TRF Mandatory & G-Form in case of prenatal
ORION TrioGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days60000TRF Mandatory & G-Form in case of prenatal
4Single gene scale up to ORIONGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days10000TRF Mandatory & G-Form in case of prenatal
5BRCA1 and BRCA2 sequencing by NGSGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Extracted DNATransport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise21 Working Days20000TRF, Consent Mandatory
6Mitochondrial genome sequencingGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline), Transport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise28 Working Days15000TRF Mandatory & G-Form in case of prenatal
7Whole genome sequencing TrioGenomicsinherited geneticsNGSBlood EDTA(4ml)EDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise65 Working Days2,90,000TRF Mandatory & G-Form in case of prenatal
8Whole genome sequencingGenomicsinherited geneticsNGSBlood EDTA(4ml)EDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise65 Working Days1,25,000TRF Mandatory & G-Form in case of prenatal
9LUMOS- COMPREHENSIVE COUPLE CARRIER SCREENING (SMA+FragileX)Genomicsinherited geneticsNGSBlood EDTA(4ml)EDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise28 Working Days35000TRF Mandatory & G-Form in case of prenatal
10ORION + MicroarrayGenomicsinherited geneticsNGSBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), Dried blood spot (8 spots per person of 10mm diameter), CVS (20-40 mg in saline)Transport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
DBS : 8 spots/person, of 10 mm diameter, completely filled (approximately 3 drops of blood i.e. 30 – 100 µL per spot,Air dry the samples for 3-4 hours on a flat, nonabsorbent surface ).
POC: submit in a sterile tube with culture medium
AF: Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
DBS : at +4 ºC. For long term storage (over 90 days), samples must be stored at -20 ºc.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Extracted DNA, Refrigerated: 5 days; Frozen: 6 months
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch Wise35 Working Days40000TRF Mandatory & G-Form in case of prenatal
11Beta thal common mutationsGenomicsinherited geneticssanger sequencingBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise5 days3000TRF Mandatory
12beta globin gene sequencingGenomicsinherited geneticssanger sequencingBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise10 days6000TRF Mandatory
13congenital adrenal hyperplasia testing: CYP21A2 analysis (seq+ MLPA)Genomicsinherited geneticsSequencing + MLPABlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch Wise30 days15000TRF Mandatory
14Duchenne Muscular Dystrophy (DMD) by MLPAGenomicsinherited geneticsMLPAEDTA Blood (3ml x 2)/Amniotic Fluid(15-20ML)/ CVS(20-40mg in saline)1. Invert several times to mix blood.
2. Send specimen in original tube
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
Batch Wise25 Days8000TRF Mandatory & G-Form in case of prenatal
15DNA isolation and storageGenomicsinherited geneticsTRF Mandatory
16Fragile X testingGenomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine25 Days7500TRF Mandatory
17Friedreich Ataxia Mutation AnalysisGenomicsinherited geneticsPCRWhole blood 3ml in EDTA vacutainerEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine20 Days6500TRF Mandatory
18Huntington Disease Molecular AssayGenomicsinherited geneticsPCRBlood EDTA/4mlEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine10 Days5500TRF Mandatory
19Maternal cell contaminationGenomicsinherited geneticsSTR Analysis4ml EDTA mothers blood + AF sampleEDTA vacutainer
AF :Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
AF : Ship and maintain specimen at room temperature.
Routine6000TRF Mandatory, G - Form in case of Pre natal Sample
20Prader-Willi /Angleman Syndrome By MS-MLPA TechniqueGenomicsinherited geneticsMLPABlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch wise20 days12500TRF Mandatory
21Myotonic dystrophy Type1 & 2Genomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine30 days13000TRF Mandatory
22Myotonic dystrophy Type1Genomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine30 days7500TRF Mandatory
23Myotonic dystrophy Type 2Genomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine30 days7500TRF Mandatory
24SMA-Digital PCRGenomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine7 days8000TRF Mandatory
25SCA (Spinocerebellar Ataxia) Single FormGenomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine10 Days2500TRF Mandatory
26SCA (Spinocerebellar Ataxia) PANELGenomicsinherited geneticsPCRBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsRoutine15 days10000TRF Mandatory
27Sanger validationGenomicsinherited geneticssanger sequencingBlood EDTA/4mlEDTA vacutainerEDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 monthsBatch wise10 days5000TRF Mandatory
28Microarray Rapidsure, PrenatalGenomicsinherited geneticsMicroarrayAF (15-20ml), CVS (20-40 mg in saline)AF : Ship and maintain specimen at room temperature.
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze.
Batch wise5 days12000TRF Mandatory & G-Form in case of prenatal
29Microarray Rapidsure, ConstitutionalGenomicsinherited geneticsMicroarrayLow ResolutionBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), CVS (20-40 mg in saline)Transport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
POC: submit in a sterile tube with culture medium
AF :Sterile plastic conical tube; do not use urine containers or tubes with rubber stoppers. Rubber is toxic to amniocytes
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
POC : Refrigerate. Do not freeze.
AF : Ship and maintain specimen at room temperature.
Batch wise12 days12000TRF Mandatory
30Microarray Rapidsure DeepdiveGenomicsinherited geneticsMicroarrayHigh ResolutionBlood EDTA(4ml), AF (15-20ml), POC (20-40mg in saline), CVS (20-40 mg in saline)Transport 1 mL whole blood to sterile tube,
CVS transport tube (sterile specimen container with transport medium)
POC: submit in a sterile tube with culture medium
EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months
CVS : Maintain specimen at room temperature, and transport it immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.
POC : Refrigerate. Do not freeze.AF : Ship and maintain specimen at room temperature.
Batch wise16 days20000TRF Mandatory
SL. NoNAL CODETEST- CODETEST NAMEDEPARTMENTTEST CATEGORYTEST METHODOLOGYTEST COMPONENTSSPECIMEN TYPE/ VOLUME / CONTAINERCOLLECTION INSTRUCTIONSSPECIMEN STABILITYSCHEDULECUT-OFFTATMRP in INR.REQUISITIONS AND CLINICAL PREREQUISITESACCREDITATION/QUALITY ASSUARANCE STATEMENT
1Pharmacogenomics by NGS
2TPMTPharmacogenomicsSanger Sequencing3ml whole blood in EDTA vacutainerNormal Venipucture, invert several times to mix blood and Send specimen in original tube avoid hemolysis.Room temperature4 days4000TRF required
3ClopidogrelPharmacogenomicsSanger Sequencing3ml whole blood in EDTA vacutainerNormal Venipucture, invert several times to mix blood and Send specimen in original tube avoid hemolysis.Maintain specimen at room temperature or refrigerate at 4°C.7 days4000
4WarfarinPharmacogenomicsSanger Sequencing3ml whole blood in EDTA vacutainerNormal Venipucture, invert several times to mix blood and Send specimen in original tube avoid hemolysis.Maintain specimen at room temperature or refrigerate at 4°C.5 days