| 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 is detected (a positive result), it 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 is detected (a positive result), it 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 |
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 |
HLA ABCDRDQ HIGH RESOLUTION |
HLA-ABCDRDQ alelles |
SBT method |
EDTA whole blood (3ml), Buccal Swab |
7 days |
To Determine HLA compatibility between specimens from bone marrow and solid organ transplant candidates and their donors |
| 5 |
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.
|
| 6 |
Antibody Screening for HLA Class I and II (PRA) |
negative or positive antibody detection of HLA Class I, Class II and MIC antibody |
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. |
| 7 |
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 |
| 8 |
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
|
| 9 |
Polycystic Kidney Disease |
Autosomal Dominant Polycystic Kidney Disease - PKD1 and PKD2 genes Autosomal Recessive Polycystic Kidney Disease - PKHD1 |
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 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. |
| 10 |
Alport Syndrome (COL4A5) |
Coding region along with certain intronic padding of COL4A3, COL4A4 and COL4A5 genes associated with Alport Syndrome. |
Next-Generation Sequencing |
Whole blood 3ml in EDTA vacutainer |
20 Days |
This test is used to screen for mutations in the genes responsible for ALPS. 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. |
| 11 |
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. |
| 12 |
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.
|
| 13 |
Childhood onset Nephrotic syndrome |
Panel of genes ACTN4,COL4A5,LMX1B,SMARCAL1,ALG1,COQ2,MYH9,TRPC6,ALMS1,COQ6,MY01E,WT1,APOL1,COQ7, NPHS1,ZMPSTE24,ARHGAP2,COQ9,NPHS2,ARHGDIA,CYP11B,PDSS2,CD151,INF2,PLCE1,CD2AP,ITGA3, PMM2,COL4A3,ITGB4,PTPRO,COL4A4,
LAMB2,SCARB2
|
Next Generation Sequencing |
EDTA whole blood (3ml) |
30 Days |
Aid in diagnosis, especially a “fuzzy” phenotype such as FSGS with clinical features common to several forms of kidney injury; Help in determining risk of recurrent disease in kidney transplantation; Allowing for
risk assessment in candidate living related kidney donors; Aid in prenatal diagnosis. |
| 14 |
Atypical Hemolytic Uremic Syndrome |
C3, CD46 (MCP), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD |
Next Generation Sequencing |
Whole blood 3ml in EDTA vacutainer |
30 Days |
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical
HUS (aHUS) ranges from the neonatal period to adulthood. |
| 15 |
CMV (Cytomegalo Virus) DNA Qualitative Detection |
Qualitative detection of Human Cytomegalovirus (CMV) |
Real time Polymerase Chain Reaction |
Whole blood 3ml in EDTA vacutainer Urine, Plasma, CSF, Body fluids |
1 Days |
CMV infection is of clinical significance primarily in pregnant women, newborn infants with possible congenital infection, immunosuppressed transplant patients and immunocompromised individuals. |
| 16 |
CMV (Cytomegalo Virus) DNA Quantitative Detection |
Quantitative detection of Human Cytomegalovirus (CMV) |
Real time Polymerase Chain Reaction |
Whole blood 3ml in EDTA vacutainer, Urine, Plasma, CSF, Body fluids |
1 Days |
CMV infection is of clinical significance primarily in pregnant women, newborn infants with possible congenital infection, immunosuppressed transplant patients and immunocompromised individuals. |
| 17 |
BK Polyoma Virus Quantitative Detection |
Quantitative detection of BK polyoma virus |
Real time Polymerase Chain Reaction |
Whole blood 3ml in EDTA vacutainer, Urine, Plasma |
1 day |
The presence of BKV DNA in blood reflects the dynamics of the disease: the conversion of plasma from negative to positive for BKV DNA after transplantation, the presence of DNA in plasma in conjunction with the
persistence of nephropathy, and its disappearance from plasma after the reduction of immunosuppressive therapy. However, BKV DNA is typically detectable in urine prior to plasma and may serve as an indication
of impending BKV associated nephropathy. |
| 18 |
Adenovirus Qualitative Detection |
Qualitative detection of Adenovirus |
Real time Polymerase Chain Reaction |
Whole blood 3ml in EDTA vacutainer, Urine, Plasma, CSF, Body fluids |
1 Days |
The rapid detection and quantitation of adenovirus DNA by a sensitive PCR technique will aid in the diagnosis and treatment monitoring of adenovirus infections, particularly in immunocompromised patients. |
