Accreditations
The above accreditations have been granted to NEUBERG SUPRATECH REFERENCE LABORATORIES PRIVATE LIMITED (NSRL). The Neuberg Center for Genomic Medicine (NCGM) is affiliated to NSRL.
Test Menu - Inherited Genetic Disorders
| LIS - Code | Test Name | Test Methodology | Specimen Type | TAT (working days) |
|---|---|---|---|---|
| T4594 | ORION (Whole Exome Sequencing (WES) with CNV calling) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot | 28 |
| T4595 | ORION Focus (Mendeliome Based Disease Associated Panel) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot | 28 |
| T4617 | ORION TRIO (Whole Exome Sequencing-Trio) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot, AF*, CVS* | 28 |
| T3212 | Mitochondrial Genome Sequencing | NGS | Blood EDTA, Extracted DNA | 28 |
| T4592 | Prenatal ORION | NGS | CVS*, AF* | 21 |
| T2451 | Beta Thalessemia (5 Common Mutations) | Sanger | Blood EDTA, Extracted DNA, Dried Blood Spot, AF*, CVS* | 8 |
| T2566 | Prenatal Beta Globin Gene Sequencing | Sanger | AF*, CVS*, Extracted DNA | 10 |
| T2564 | Beta Globin (HBB) Gene Sequencing | Sanger | Blood EDTA, Extracted DNA | 12 |
| P3899 | Beta Globin Gene Trio / Beta Thalessemia Trio | Sanger | Blood EDTA, Extracted DNA, AF*, CVS* | 12 |
| T2549 | Congenital Arenal Hyperplasia Testing: CYP21A2 analysis (seq+ MLPA)/ Congenital Adrenal Hyperplasia (Seq+MLPA) | NGS + MLPA | Blood EDTA, CVS*, AF* | 30 |
| T3717 | Duchenne Muscular Dystrophy (DMD) By MLPA | MLPA | Blood EDTA, Extracted DNA, AF*, CVS* | 15 |
| T2454 | Fragile X Syndrome | TP-PCR | Blood EDTA | 15 |
| T2594 | Huntington Disease Molecular Assay | TP-PCR | Blood EDTA | 10 |
| 2119 | Maternal Cell Contamination (MCC) | QF-PCR | Blood EDTA (Maternal Blood) | 3 |
| 2117 | Spinal Muscular Atrophy (SMA) By MLPA | MLPA | Blood EDTA, AF*, CVS* | 15 |
| T2543 | Sanger Validation | Sanger | Blood EDTA | 28 |
| T1011 | Prenatal Sanger Validation | Sanger | AF*, CVS* | 15 |
| 2116 | Aneuploidy Detection By QF-PCR | PCR | Blood EDTA (Maternal blood for MCC) ,AF*, CVS* | 7 |
| T3657 | Prenatal Microarray (Cytoscan Optima) | Microarray | Amniotic Fluid*, CVS* | 7 |
| T3759 | Microarray Constitutional | Microarray | Dried Blood Spot, Product Of Conception,Blood EDTA, Extracted DNA | 12 |
| T3656 | Microarray Rapidsure Deepdive/Microarray 750K | Microarray | Dried Blood Spot, Blood EDTA, Extracted DNA | 16 |
| P4112 | Lumos Plus (Female)/LUMPLUSFEM [Alpha Thalassemia, Congenital Adrenal Hyperplasia (Seq+MLPA), DMD Duchenne Muscular Dystrophy By MLPA,F8 Intron1/22 inversion,Fragile X Syndrome, Spinal Muscular Atrophy (SMA) By MLPA] | Blood EDTA, Extracted DNA | 28 | |
| P4113 | Lumos Plus (Male)/LUMPLUSMAL [Alpha Thalassemia, Congenital Adrenal Hyperplasia (Seq+MLPA), Spinal Muscular Atrophy (SMA) By MLPA] | NGS + MLPA | Blood EDTA, Extracted DNA | 28 |
| P4114 | Lumos Comprehensive (Female)/LUMCOMPFEM [Spinal Muscular Atrophy (SMA) By MLPA, DMD Duchenne Muscular Dystrophy By MLPA, Congenital Adrenal Hyperplasia (Seq+MLPA), Fragile X Syndrome] | NGS + MLPA | Blood EDTA, Extracted DNA | 28 |
| P4115 | Lumos Comprehensive (Male)/LUMCOMPMAL [Spinal Muscular Atrophy (SMA) By MLPA, Congenital Adrenal Hyperplasia (Seq+MLPA)] | NGS + MLPA | Blood EDTA, Extracted DNA | 28 |
| P4116 | Lumos Focus (Female)/LUMFOCSFEM [Spinal Muscular Atrophy (SMA) By MLPA, DMD Duchenne Muscular Dystrophy By MLPA] | NGS + MLPA | Blood EDTA, Extracted DNA | 28 |
| P4117 | Lumos Focus (Male)/LUMFOCSMAL [Spinal Muscular Atrophy (SMA) By MLPA] | NGS + MLPA | Blood EDTA, Extracted DNA | 28 |
| Specimen Type | Container | Volume | Temperature |
|---|---|---|---|
| Whole Blood EDTA | Purple / Lavender Top Vaccutainer | 4 ml ( 2 vials)/ 6-8ml (for LUMOS) | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Heparin Blood | Green Top Vaccutainer | 3 ml ( 2 vials) | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Dried Blood Spot (DBS) | FTA card | 2-4 spot, minimum 14-18mm | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Product of Conception | Sterile container with culture media / Sterile plastic container with normal saline + 0.25 ml Inj Gentamycin/Amikacin | 50 mg of villous material apearing to be of fetal origin/ fetal end of umbilical cord 1-2 cm/ | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Fetal Tissue | Fetal tissue in culture media/ Sterile Container with normal saline + 0.5 ml Inj Gentamycin/Amikacin. | Fetal tissue ( skin/organ/small part) (Entire fetus is undesirable) | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Amniotic Fluid (AF)* | Falcon Tubes (15 ml) | 10 to 20 ml AF in two Falcon Tubes | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Chorionic Villus Sample/Biopsy(CVS)* | Falcon tubes (15 ml) | 50 mg cleaned villi + 3ml Amniomax media | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Extracted DNA | 1.5 ml Eppendorf Tube | 30 to 100 ul. (Min. quantity: 20ng/ul and quality : 260/280 ratio between 1.50 to 2.20) | At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius |
| Trophoectodermal cells | -20°C Mini Cooler | 2.5ul with Supratech Transport Buffer | -20°C Mini Cooler |
| Trophoblast Cell | -20°C Mini Cooler | 2.5ul with supratech transport buffer | -20°C Mini Cooler |
Please note:
In case of high temperature, send the samples accompanied with cool packs.
Extracted DNA is NOT PREFERRED for prenatal sample testing.
Product of conception (POC) – Entire fetus is undesirable. In exceptional cases please send fetal end of umbilical cord 1-2 cm. The rest of the fetus has to be sent in a wide topped screw tight container in 10% formalin.