| 1 |
Donor Specific Antigen (DSA) (Luminex) |
Antigen-Antibody reaction is determined (positive or negative). |
Luminex solid phase assay |
Donor: Sodium Heparin Vacutainer (3ml x 5 vials); Recipient: Plain Vacutainer (3ml x 2 vials |
3 Days |
This test is ordered after a potential donor has been identified. It helps to determine if the recipient has specific antibodies against antigens present on the donor's lymphocytes. Serum from the recipient is mixed
with white blood cells (T and B lymphocytes) of the donor. If any reaction has been detected (a positive result) that would indicate the incompatibility between two of them. The cross match result should be
always interpreted along with the known information about the recipient's HLA antibodies and the donor's HLA typing. |
| 2 |
LCM-CDC |
Antigen-Antibody reaction in the format of percentage |
Manual |
Donor: Sodium Heparin Vacutainer (3ml x 5 vials); Recipient: Plain Vacutainer (3ml x 2 vials) |
3 days |
This test is ordered after a potential donor has been identified. It helps to determine if the recipient has specific antibodies against antigens present on the donor's lymphocytes. Serum from the recipient is mixed
with white blood cells (T and B lymphocytes) of the donor. If any reaction has been detected (a positive result) that would indicate the incompatibility between two of them. The cross match result should be
always interpreted along with the known information about the recipient's HLA antibodies and the Donor’s HLA Typing |
| 3 |
HLA ABCDRDQ Low resolution |
HLA-ABCDRDQ alelles in low resolution |
SSO PCR method by Luminex |
EDTA whole blood (3ml), Buccal Swab |
3 days |
To Determine HLA compatibility between specimens from bone marrow and solid organ transplant candidates and their donors |
| 4 |
SINGLE ANTIGEN CLASS I AND II |
negative or positive antibody detection of HLA Class I & II |
Luminex solid phase assay |
Recipient: Plain Vacutainer (3ml x 2 vials) |
4 Days |
This assay is used for the detection of pre & post transplantation HLA antibodies in solid organ transplant recipients and in unmatched Bone marrow transplants. It detects antibodies against HLA Class I antigens. |
| 5 |
Antibody Screening for HLA Class I and II (PRA) |
negative or positive antibody detection of HLA Class I, Class II and MIC antibody |
Latex agglutination |
Citrate PlasmaRecipient: Plain Vacutainer (3ml x 2 vials) |
4 Days |
This assay is used for the detection of pre & post transplantation HLA antibodies in solid organ transplant recipients and in unmatched Bone marrow transplants. |
| 6 |
BK Polyoma Virus Quantitative Detection |
Qualitative detection of BK polyomavirus |
Real Time PCR |
EDTA whole blood (3ml), Urine, CSF |
1 day |
Double-stranded DNA virus Human polyomavirus (genetically similar to JC virus) BK virus becomes latent in the kidneys and urinary tract after primary infection Reactivated BK virus infection may occur with immunosuppression |
| 7 |
JC Polyoma Virus Quantitative Detection |
Qualitative detection of JC polyoma virus |
Real Time PCR |
EDTA whole blood (3ml), Urine, CSF |
1 Day |
JC virus (JCV), a member of the genus Polyomavirus, is a small nonenveloped DNA-containing virus. Primary infection occurs in early childhood, with a prevalence of greater than 80%. The virus is latent but can reactivate
in immunosuppressed patients |
| 8 |
CMV (Cytomegalovirus) DNA Qualitative Detection |
Qualitative detection of Human Cytomegalovirus (CMV) |
Real Time PCR |
EDTA whole blood (3ml) |
1 Day |
Largest member of the herpesvirus family; double-stranded DNA virus Ability to remain latent (feature of all herpes viruses) Large intranuclear and cytoplasmic inclusions produced in tissues by CMV are the hallmark
of the disease |
| 9 |
CMV (Cytomegalovirus) DNA Quantitative Analysis |
Quantitative detection of Human Cytomegalovirus (CMV) |
Real Time PCR |
CSF, EDTA whole blood (3ml) |
1 Day |
Largest member of the herpesvirus family; double-stranded DNA virus Ability to remain latent (feature of all herpes viruses) Large intranuclear and cytoplasmic inclusions produced in tissues by CMV are the hallmark
of the disease |
| 10 |
Clinical exome sequencing. |
A panel of genes. |
NGS |
Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration. Specimen at room temperature. Also acceptable: Refrigerated. Ship in cooled container
during summer months. |
20 Days |
Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for establishing a definitive molecular diagnosis of individuals with rare genetic disorders which can allow for: -Better understanding
of the natural history/prognosis -Targeted management (anticipatory guidance, management changes, specific therapies) -Predictive testing of at-risk family members -Testing and exclusion of disease in siblings
or other relatives -Recurrence risk assessment -Reproductive decision-making Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative Providing a potentially
cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays |
| 11 |
Maple Syrup Urine Disease Panel |
DBT, DLD, BCKDHA, BCKDHB genes |
Next-Generation Sequencing |
Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration |
20 Days |
This test is used to screen for mutations in the genes responsible for MSUDP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child
bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation. |
| 12 |
Urea Cycle Disorders Panel |
Panel of genes- ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC
(C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70 |
Next-Generation Sequencing |
Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration |
20 Days |
Molecular confirmation of a clinical diagnosis Testing of patients suspected of having a urea cycle disorder, transporter defect or unexplained hyperammonemia Prenatal diagnosis for known familial mutation(s) in
at-risk pregnancies |
| 13 |
Polycystic Kidney Disease |
Autosomal Dominant Polycystic Kidney Disease - PKD1 and PKD2 genes Autosomal Recessive Polycystic Kidney Disease - PKHD1 |
Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration |
Serum |
20 Days |
This test is used to screen for mutations in the genes responsible for PKD. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child
bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation. |
| 14 |
Primary Hyperoxaluria types 1 & 2 |
AGXT, GRHPR and HOGA1 Genes |
Next Generation Sequencing |
EDTA whole blood (3ml) |
20 Days |
This test is used to screen for the mutations in the AGXT and GRHPR gene responsible for Primary Hyperoxuluria types 1 & 2. Detection of pathogenic mutation in an individual can lead to a diagnosis, possible prognosis,
and prospective therapy treatments |
| 15 |
Renal Hypouricemia (SLC22A12 & SLC2A9) |
SLC22A12 and SLC2A9 Gene |
Sanger Sequencing |
Whole blood 3ml in EDTA vacutainer |
20 Days |
Detection of pathogenic mutation in an individual can lead to a diagnosis, possible prognosis, and prospective therapy treatments./td>
|
| 16 |
Tacrolimus Mutation Study |
Targeted Mutation in CYP3A4 |
Sanger Sequencing |
Whole blood 3ml in EDTA vacutainer |
7 Days |
Tacrolimus is a macrolide antibiotic derived from the fungus Streptomyces tsukubaensis. Like cyclosporine, tacrolimus inhibits calcineurin to suppress T cells. Tacrolimus is metabolized by CYP3A4, thus its concentrations
are affected by drugs that inhibit (calcium channel blockers, antifungal agents, some antibiotics, grapefruit juice) or induce (anticonvulsants, rifampin) this enzyme. Tacrolimus has a narrow therapeutic range,
and adverse effects are common, particularly at high dose and concentrations, making therapeutic drug monitoring essential |
