| Type Test | Indication | CPT Codes | Sample Requirements | *Collection Info | TAT |
|---|
| Alagille syndrome 1 (JAG1) | Cholestasis, paucity of bile ducts, cardiac defects, skeletal abnormalities, ophthalmalogic abnormalities and characteristic facial features | 83890
83898 (x3)
83894 (x3)
83891 (x2)
83904 (x49) 83909 (x49)
83912 | No less than 2 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
| Alpha-1-antitrypsin deficiency (A1AT) | Intrahepatic cholestasis in infancy, COPD or cholestatic liver disease in adulthood. | 83890
83898 (x3)
83894 (x3)
83891 (x2)
83904 (x49) 83909 (x49)
83912 | No less than 2 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
| A1AT genotype assay | Intrahepatic cholestasis in infancy, COPD or cholestatic liver disease in adulthood. Determination of PI*Z and PI*S alleles only. | 83890
83896 (x2)
83900
83909
83912 | No less than 2 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 48 hours |
| Autoimmune lympho-proliferative syndrome (ALPS, types Ia and O) secondary to mutations in FAS (TNFRSF6) | Chronic or recurrent lymphadenopathy, [hepato] splenomegaly, autoimmune disease affecting blood cells and other tissues | 83890
83898 (x9)
83894 (x9)
83891 (x9)
83904 (x18)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| BCR / ABL by PCR | CML/AML/NHL cancer | 83891
83902
83898 (x9)
83894
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 6 business days if received by Tuesdays @ 2 PM |
| Cadherin 23 | Nonsyndromic hearing loss, Usher syndrome - type 1 | 83890
83898 (x66)
83894 (x66)
83891 (x66)
83904 (x132)
83912 | No less than 3 ml. in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 4-5 weeks |
| Connexin 26 (Includes ENT specialist interpretation) | Hearing loss; deafness, family history of deafness | 83890
83898 (x2)
83894 (x2)
83891 (x2)
83904 (x6)
83912
| No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2-3 weeks |
| Connexin 30 | Hearing loss; deafness, family history of deafness | 83890
83898 (x3)
83894 (x3)
83912 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2-3 weeks |
| CYP450 | Genetic pharmacology testing | varies; please call for specific test information | No less than 2 mL in purple top EDTA tube. Cytobrushes are also acceptable. | Room temperature | 48 hours |
| Cystic Fibrosis Carrier Screening | Pregnancy screen, family history of CF | 83900
83901 (x13)
83891 83912 88384
| No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3 business days from receipt |
| DNA Extraction | | 83890 | No less than 3 mL in purple tope EDTA tube | Room temperature | |
| ELA2 | Severe congenital neutropenia, cyclic neutropenia | 83890 83898x5 83894x7 83891x5 83904x11 83909x11 83912 | No less that 3 mL in a purple top EDTA tube | Blood; Room temperature (refrigerate if kept overnight) | 4 weeks |
| Fabry Disease | GLA deficiency; hand pain, temperature intolerance, high fevers, nausea, diarrhea NOS; vascular lesions; early onset kidney failure, heart disease, strokes. | 83890
83898 (x7)
83894 (x7)
83891(x7)
83904 (x14)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3 weeks |
| Factor V Leiden Mutation Analysis Only | Coagulopathy NOS, deep vein thrombosis, thrombophilia | 83890
83894
83898 (x2)
83912 | No less than 2 ml in purple top EDTA tube | BLOOD
Room temperature (refrigerate if kept overnight) | 1-week |
| Fragile X | MR; dev. delay; hypotonia; macrocephaly; dysmorphic features; family history of Fragile-X syndrome | 83890
83892
83894
83898
83896 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2 weeks |
| Gaucher Disease | Deficient acid B-glucosidase; enlarged liver and / or spleen, low platelets | 83890
83898 (x8)
83894 (x8)
83891X8 83904 (x24)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3 weeks |
| HAX1 (Kostmann disease) | Severe congenital neutropenia | 83909 83898x7 83894x9 83891x7 83904x14 83909x14 83912 | No less that 3 mL in purple top EDTA tube | Blood at room temperature (refigerate if kept overnight) | 4 weeks |
Hearing Loss Panel Tier 1 Connexin 26 with connexin 30 deletion analysis and mitochondrial mutation screening. | Hearing loss; deafness, family history of deafness | 83890
83898 (x5)
83894 (x3)
83891 (x4)
83904 (x10)
83912
84378 | No less than 2 ml. in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
Hearing Loss Panel Tier 2 Cadherin 23, Myosin 7A and Otoferlin | Nonsyndromic hearing loss, Usher syndrome, auditory neuropathy | 83890 (X2)
83898 (x162)
83894 (x162)
83891 (x162) 83904 (x324)
83912 | No less than 3 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 6-8 weeks |
| Hereditary Hemochromatosis | Diabetes, bronze skin; liver disease, cardiomyopathy, iron storage disease | 83891
83894
83898
83912
83892 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2 weeks (5 days stat) |
| Hunter Syndrome (MPS II, IDS) | Developmental
delay, coarse facial features, hepato-splenomegaly, abdominal and inguinal hernias, behavioral abnormalities | 83890
83898 (x10)
83894 (x10)
83891 (x10)
83904 (x20)
83909 (x20)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3 weeks |
IPEX (FOXP3) [X-linked immune dysregulation, polyendocrinopathyy, enteropathy syndrome] | Infantile onset of systemic autoimmunity including type I diabetes or thyroid disease, severe watery diarrhea and dermatitis, failure-to-thrive, life-threatening infections and additional autoimmune disorders including various cytopenias, tubular nephrology and alopecia | 83890
83898 (x7)
83894 (x7)
83891 (x22)
83904 (x44)
83909 (x14)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 4 weeks |
| JaundiceChip Resequencing Array | Hepatomegaly, cholestasis, pruritis, with or without extrahepatic symptoms, elevated serum bile acids, abnormal GGT in infancy. | 83890
83898 (x36)
83894 (x36)
84378 (x36)
83892 88386 83904 (x10) 83909 (x10)
83912 | No less than 2 mL in a purple top EDTA tube | No less than 2 mL in a purple top EDTA tube | 3-4 weeks |
MCAD--Medium acyl-CoA
dehydrogenase
deficiency | Unexplained hypoglycemia or metabolic acidosis in an infant; abnormal newborn screen, acylcarnitine or organic acids profile consistent with MCAD deficiency; family history of MCAD deficiency | 83890
83898 (x11)
83894 (x11)
83891 (x11)
83904 (x22)
83912
| No less than 3 ml in a purple top EDTA tube | No less than 3 ml in a purple top EDTA tube | 3-4 weeks |
MECP2 (Rett syndrome) | Developmental delay or regression, autism spectrum disorders, severe neonatal encephalopathy in males | 83890 83898x6 83894x6 83891x5 83904x10 83909x10 83912 | No less than 3 mL in a purple top EDTA tube | Blood at room temperature (refigerate if kept overnight) | 3-4 weeks |
Mitochondrial mutation
screening*
for hereditary hearing loss *A1555G, C1494T, A7445G, C7511T | Hearing loss; deafness, family history of deafness; particularly with a history of aminoglycoside exposure | 83890
83898 (x3)
83894
83891(x3)
83904 (x6)
83912
84378 | No less than 2 ml in a purple top EDTA tube | BLOOD
Room temperature (refrigerate if kept overnight | 2-3 weeks |
MUNC13-4
(Familial hemophagocytic lymphohistiocytosis) | HLH; fevers, hepatosplenomegaly, pancytopenia, coagulation
defect, CNS
Involvement | 83890
83898 (x22)
83894 (x5)
83891 (x22)
83904 (x44)
83912
| No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2 months |
Myosin 7A | Nonsyndromic hearing loss, Usher syndrome type 2 | 83890
83898 (x49)
83894 (x49)
83891 (x49)
83904 (x98)
83912 | No less than 3 ml. in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 4-5 weeks |
Otoferlin
| Nonsyndromic hearing loss, auditory neuropathy | 83890
83898 (x47)
83894 (x47)
83891 (x47)
83904 (x94)
83912 | No less than 3 ml. in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 4-5 weeks |
Pendrin
(SLC26A4) | Sensorineural hearing loss with temporal bone abnormalities (EVA) | 83890
83898 (x20)
83894 (x20)
83904 (x40)
83909 (x40)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2-3 weeks |
PFIC1/BRIC1 (FIC1 Deficiency) | PFIC1: Hepatomegaly, cholestasis, pruritis, severe diarrhea, failure to thrive, pancreatic insufficiency elevated serum bile acids and low GGT in infancy. BRIC1: intermittent bouts of cholestasis, pruritis and diarrhea. | 83890
83898 (x12)
83894 (x12) 83891 (x11)
83904 (x50)
83909 (x50)
83912 | No less than 2 ml in a purple top EDTA tubeNo | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
PFIC2 (BSEP Deficiency) | PFIC2: Hepatomegaly, cholestasis, pruritis, hepatocellular carcinoma, elevated serum bile acids and low GGT, BRIC1: intermittent bouts of cholestasis, pruritis and diarrhea. | 83890
83898 (x11)
83894 (x11) 83891 (x10)
83904 (x54)
83909 (x54)
83912 | No less than 2 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
PFIC3 (MDR3 Deficiency) | PFIC3: Hepatomegaly, cholestasis, pruritis, elevated serum bile acids and high GGT in infancy. Intrahepatic cholestasis of pregnancy may occur in female carriers of this disease. BRIC1: intermittent bouts of cholestasis, pruritis and diarrhea. | 83890
83898 (x10)
83894 (x10) 83891 (X9)
83904 (x54)
83909 (x54)
83912 | No less than 2 mL in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
PRF1 (Familial hemophagocytic lymphohistiocytosis) | HLH; fevers, hepatosplenomegaly, pancytopenia, coagulation defect, CNS Involvement | 83890
83898 (x3)
83894 (x3)
83891(x2)
83904 (x12)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
PML/RAR
By PCR | APL Or Leukemia | 83891
83902
83898 (x4)
83894
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 6 business days if received by Tuesdays @ 2 PM
|
Pompe disease(GAA) includes infantile form | Hypertrophic cardiomyopathy,
feeding difficulties, cardiac disease
/ failure, respiratory distress, muscle weakness, enlarged tongue | 83890
83898 (x17)
83894 (x17)
83891 (x17)
83904 (x34)
83909 (x34)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1-2 weeks for infantile form 2-3 weeks for juvenile or adult onset form |
| Prader Willi or Angelman Syndrome | Developmental delay; dysmorphic features; failure to thrive; hypotonia, MR; microcephaly, obesity, seizure disorder | 83891
83894
83901 (x2)
83912 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2-3 weeks |
SCT-BME Bone marrow
engraftment
for sub-cell type | Determination of specific types of cells following bone marrow transplantation. | 88184
83890 (x2)
83900 (x4)
83901(x26)
83902 (x4)
83912 | Donor: 5ml EDTA lavendar top tube. Pretransplant: 5 ml EDTA tube. Post-transplant: - WBC>2,000 / dl = 5 ml EDTA tube
- WBC<2,000 / dl = 10ml EDTA tube
OR 3ml bone marrow in sodium heparin (green top) tube. | BLOOD Room temperature (refrigerate if kept overnight) | 4 business days |
STR
Bone Marrow Engraftment | Determination of proportions of host and donor cells following bone marrow transplantation. | 83890
83894
83898
83912 | Donor: 5ml EDTA lavendar top tube. Pretransplant: 5 ml EDTA tube. Post-transplant: - WBC>2,000 / dl = 5 ml EDTA tube
- WBC<2,000 / dl = 10ml EDTA tube
OR 3ml bone marrow in sodium heparin (green top) tube. | BLOOD Room temperature (refrigerate if kept overnight) | 4 business days |
STR
Maternal
Exclusion | In conjunction with prenatal testing by amniocentesis or chorionic villus sampling | 83890
83894
83898 (x10)
83912 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | |
STX11 (Familial hemophagocytic lymphohistiocytosis) | HLH; fevers, hepatosplenomegaly, pancytopenia, coagulation defect, CNS Involvement | 83890
83898
83894
83891
83904 (x6)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| Thrombophilic Polymorphism Panel (Factor V Leiden, PAI-1, MTHFR, Prothrombin 20210) | Coagulopathy NOS, deep vein thrombosis, thrombophilia | 83890
83894 (x4)
83898 (x5)
83912 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1-2 weeks |
| TPMT Genotype | Genetic pharmacology testing | 83891 83898x8 83912 | No less than 2 mL in purple top EDTA tube; cytobrushes are also acceptable | Room temperature | 48 hours |
| Twin Zygosity Studies | | 83890 (x2)
83894
83898 (x10)
83912 | No less than 2 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | |
| VLCAD--Very-long-chain acyl-CoA dehydrogenase deficiency | Cardiomyopathy, pericardial effusion and/or arrhythmia; hypoglycemia; rhabdomyolysis / skeletal myopathy; abnormal newborn screen or acylcarnitine profile consistent with VLCAD deficiency; family history of VLCAD deficiency | 83890
83898 (x12)
83894 (x12)
83891 (x12)
83904 (x24)
83912
| No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
| Wiskott-Aldrich Syndrome (WAS) | Thrombocytopenia, small platelet diameter, eczema, recurrent infections | 83890
83898 (x7)
83894 (x8)
83891 (x6)
83904 (x19)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 3-4 weeks |
| X-Linked Hyper IgM Immunodeficiency syndrome (XHM) | Recurrent bacterial infections, hematologic disorders, neutropenia, thrombocytopenia, hemolytic anemia, GI abnormalities, neurologic deterioration, elevated IgM with hypogammaglobulinemia | 83890
83898 (x5)
83894 (x5)
83891 (x5)
83904 (x10)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| X-Linked Lympho-proliferative disease (XLP-SH2D1A) | Fulminant Epstein-Barr Virus (EBV) infection, lymphoma, dysgamma-globinemia | 83890
83898 (x4)
83894 (x4)
83891 (x4)
83904 (x8)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| X-Linked Lympho-proliferative disease (XLP-BIRC4) | Fulminant Epstein-Barr Virus (EBV) infection, lymphoma, dysgammaglobinemia | 83890
83898 (x6)
83894 (x6)
83891 (x6)
83904 (x12)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| X-Linked Severe Combined Immuno-deficiency (XSCID) | Recurrent and life-threatening infections, thymic hypoplasia, growth failure, agammaglobulinemia | 83890
83898 (x4)
83894 (x4)
83891 (x4)
83904 (x16)
83912 | No less than 3 ml in a purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 1 month |
| Family Specific Mutation Detection (for diseases listed above) | Molecular analysis of at-risk family members of proband previously identified with specific mutation | 83890
83898
83894
83891
83904
83912 | No less than 3 ml in purple top EDTA tube | BLOOD Room temperature (refrigerate if kept overnight) | 2-4 weeks |
