| SL. No | NAL CODE | TEST- CODE | TEST NAME | DEPARTMENT | TEST CATEGORY | TEST METHODOLOGY | TEST COMPONENTS | SPECIMEN TYPE/ VOLUME / CONTAINER | COLLECTION INSTRUCTIONS | SPECIMEN STABILITY | SCHEDULE | CUT-OFF | TAT | MRP in INR. | REQUISITIONS AND CLINICAL PREREQUISITES | ACCREDITATION/QUALITY ASSUARANCE STATEMENT |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Single gene analysis via NGS | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 28 Working Days | 15000 | TRF Mandatory & G-Form in case of prenatal SAMPLE | |||||
| 2 | ORION (Whole Exome) | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 28 Working Days | 22000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 3 | ORION Focus | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 28 Working Days | 16000 | TRF Mandatory & G-Form in case of prenatal | |||||
| ORION Trio | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 28 Working Days | 60000 | TRF Mandatory & G-Form in case of prenatal | ||||||
| 4 | Single gene scale up to ORION | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 28 Working Days | 10000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 5 | BRCA1 and BRCA2 sequencing by NGS | Genomics | inherited genetics | NGS | Blood 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 DNA | 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 Wise | 21 Working Days | 20000 | TRF, Consent Mandatory | |||||
| 6 | Mitochondrial genome sequencing | Genomics | inherited genetics | NGS | Blood 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 Wise | 28 Working Days | 15000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 7 | Whole genome sequencing Trio | Genomics | inherited genetics | NGS | Blood EDTA(4ml) | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 65 Working Days | 2,90,000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 8 | Whole genome sequencing | Genomics | inherited genetics | NGS | Blood EDTA(4ml) | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 65 Working Days | 1,25,000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 9 | LUMOS- COMPREHENSIVE COUPLE CARRIER SCREENING (SMA+FragileX) | Genomics | inherited genetics | NGS | Blood EDTA(4ml) | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 28 Working Days | 35000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 10 | ORION + Microarray | Genomics | inherited genetics | NGS | Blood 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 Wise | 35 Working Days | 40000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 11 | Beta thal common mutations | Genomics | inherited genetics | sanger sequencing | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 5 days | 3000 | TRF Mandatory | |||||
| 12 | beta globin gene sequencing | Genomics | inherited genetics | sanger sequencing | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 10 days | 6000 | TRF Mandatory | |||||
| 13 | congenital adrenal hyperplasia testing: CYP21A2 analysis (seq+ MLPA) | Genomics | inherited genetics | Sequencing + MLPA | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch Wise | 30 days | 15000 | TRF Mandatory | |||||
| 14 | Duchenne Muscular Dystrophy (DMD) by MLPA | Genomics | inherited genetics | MLPA | EDTA 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 Wise | 25 Days | 8000 | TRF Mandatory & G-Form in case of prenatal | |||||
| 15 | DNA isolation and storage | Genomics | inherited genetics | TRF Mandatory | ||||||||||||
| 16 | Fragile X testing | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 25 Days | 7500 | TRF Mandatory | |||||
| 17 | Friedreich Ataxia Mutation Analysis | Genomics | inherited genetics | PCR | Whole blood 3ml in EDTA vacutainer | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 20 Days | 6500 | TRF Mandatory | |||||
| 18 | Huntington Disease Molecular Assay | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 10 Days | 5500 | TRF Mandatory | ||||||
| 19 | Maternal cell contamination | Genomics | inherited genetics | STR Analysis | 4ml EDTA mothers blood + AF sample | EDTA 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. | Routine | 6000 | TRF Mandatory, G - Form in case of Pre natal Sample | ||||||
| 20 | Prader-Willi /Angleman Syndrome By MS-MLPA Technique | Genomics | inherited genetics | MLPA | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch wise | 20 days | 12500 | TRF Mandatory | |||||
| 21 | Myotonic dystrophy Type1 & 2 | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 30 days | 13000 | TRF Mandatory | |||||
| 22 | Myotonic dystrophy Type1 | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 30 days | 7500 | TRF Mandatory | |||||
| 23 | Myotonic dystrophy Type 2 | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 30 days | 7500 | TRF Mandatory | |||||
| 24 | SMA-Digital PCR | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 7 days | 8000 | TRF Mandatory | |||||
| 25 | SCA (Spinocerebellar Ataxia) Single Form | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 10 Days | 2500 | TRF Mandatory | |||||
| 26 | SCA (Spinocerebellar Ataxia) PANEL | Genomics | inherited genetics | PCR | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Routine | 15 days | 10000 | TRF Mandatory | |||||
| 27 | Sanger validation | Genomics | inherited genetics | sanger sequencing | Blood EDTA/4ml | EDTA vacutainer | EDTA : Ambient: 24 hours; Refrigerated: 5 days; Frozen: 6 months | Batch wise | 10 days | 5000 | TRF Mandatory | |||||
| 28 | Microarray Rapidsure, Prenatal | Genomics | inherited genetics | Microarray | AF (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 wise | 5 days | 12000 | TRF Mandatory & G-Form in case of prenatal | ||||||
| 29 | Microarray Rapidsure, Constitutional | Genomics | inherited genetics | Microarray | Low Resolution | Blood 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 wise | 12 days | 12000 | TRF Mandatory | ||||
| 30 | Microarray Rapidsure Deepdive | Genomics | inherited genetics | Microarray | High Resolution | Blood 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 wise | 16 days | 20000 | TRF Mandatory |
| SL. No | NAL CODE | TEST- CODE | TEST NAME | DEPARTMENT | TEST CATEGORY | TEST METHODOLOGY | TEST COMPONENTS | SPECIMEN TYPE/ VOLUME / CONTAINER | COLLECTION INSTRUCTIONS | SPECIMEN STABILITY | SCHEDULE | CUT-OFF | TAT | MRP in INR. | REQUISITIONS AND CLINICAL PREREQUISITES | ACCREDITATION/QUALITY ASSUARANCE STATEMENT |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Pharmacogenomics by NGS | |||||||||||||||
| 2 | TPMT | Pharmacogenomics | Sanger Sequencing | 3ml whole blood in EDTA vacutainer | Normal Venipucture, invert several times to mix blood and Send specimen in original tube avoid hemolysis. | Room temperature | 4 days | 4000 | TRF required | |||||||
| 3 | Clopidogrel | Pharmacogenomics | Sanger Sequencing | 3ml whole blood in EDTA vacutainer | Normal 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 days | 4000 | ||||||||
| 4 | Warfarin | Pharmacogenomics | Sanger Sequencing | 3ml whole blood in EDTA vacutainer | Normal 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 |