| Type Test |
Indication |
CPT Codes |
Sample Requirements |
*Collection Info |
TAT |
| ABCB4 |
Persistent familial cholestasis (PFIC3) and (BRIC3); 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 at room temperature (refrigerate if kept overnight) |
3-4 weeks |
| ABCB11 |
Persistent familial cholestasis (PFIC2) and (BRIC2); 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 at room temperature (refrigerate if kept overnight) |
3-4 weeks |
ACADM
|
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 |
Blood at room temperature (refrigerate if kept overnight) |
3-4 weeks |
| ACADM (K329E)allele only |
Medium chain acyl-CoA dehydrogenase deficiency (MCAD); 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
83894
83898(x2)
83912 |
No less than 3 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
2 business days |
| ACADVL |
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD); 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 at room temperature (refrigerate if kept overnight) |
3-4 weeks |
ATP8B1
|
Persistent familial cholestasis (PFIC1) and (BRIC1); PFIC1 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 tube |
Blood at room temperature (refrigerate if kept overnight) |
3-4 weeks |
| 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
|
| BCR / ABL by Quantatative PCR |
CML/AML/NHL cancer |
83891
83896(x14)
83898(x14)
83902
83907
83912
|
5-10 mL blood in EDTA tube or 3-5 mL bone marrow in EDTA tube |
Receive in lab the same day or ship overnight on wet ice. Do not allow to freeze. |
7-10 days |
| CASP10 |
Autoimmune lymphoproliferative syndrome (ALPS, type II); chronic or recurrent lymphadenopathy, [hepato] splenomegaly, autoimmune disease affecting blood cells and other tissues |
83890
83898(x9)
83894(x11)
83891(x9)
83904(x23)
83909(x23)
83912
|
No less than 3 ml in a purple top EDTA tube |
Blood; room temperature (refrigerate if kept overnight) |
1 month |
| CD40LG |
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 at room temperature (refrigerate if kept overnight) |
1 month |
| CDH23 |
Usher syndrome type 1 and nonsyndromic hearing loss |
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
|
| 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 |
2 business days |
| DNA Extraction |
|
83890 |
No less than 3 mL in purple tope EDTA tube |
Room temperature |
|
| ELA2 |
Severe congenital neutropenia, cyclic neutropenia |
83890
83898(x5)
83894(x7)
83891(x5)
83904(x11)
83909(x11)
83912 |
No less that 3 mL in a purple top EDTA tube |
Blood; Room temperature (refrigerate if kept overnight) |
4 weeks |
| Factor V Leiden Mutation Analysis Only |
Coagulopathy, deep vein thrombosis, thrombophilia |
83890
83894
83898(x2)
83912 |
No less than 2 ml in purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
1-week
|
| Family Specific Mutation Detection (for diseases listed above) |
Molecular analysis of at-risk family members of proband previously identified with specific mutation; must be discussed with our genetic counselors prior to submission |
83890
83898
83894
83891
83904
83912 |
No less than 3 ml in purple top EDTA tube
|
Blood at room temperature (refrigerate if kept overnight)
|
2-4 weeks |
| FAS (TNFRSF6) |
Autoimmune lymphoproliferative syndrome (ALPS, types Ia and O); 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
|
| FASLG (TNFSF6) |
Autoimmune lympho-proliferative syndrome (ALPS, type Ib); chronic or recurrent lymphadenopathy, [hepato] splenomegaly, autoimmune disease affecting blood cells and other tissues |
83890
83898(x5)
83894(x7)
83891(x5)
83904(x12)
83909(x12)
83912
|
No less than 3 ml in a purple top EDTA tube |
Blood; room temperature (refrigerate if kept overnight) |
1 month
|
| FMR1 by PCR |
Fragile X syndrome; 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 at room temperature (refrigerate if kept overnight) |
2 weeks
|
FOXP3
|
IPEX (X-linked immune dysregulation, polyendocrinopathy, 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 at room temperature (refrigerate if kept overnight) |
4 weeks
|
| GAA |
Pompe disease; GAA deficiency (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 at room temperature (refrigerate if kept overnight) |
1-2 weeks for infantile form; 2-3 weeks for juvenile or adult onset form |
| GBA |
Gaucher disease; GBA deficiency; enlarged liver and / or spleen, low platelets |
83890
83898(x8)
83894(x8)
83891(x8)
83904(x24)
83912
|
No less than 3 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
3 weeks |
GBA genotype analysis
(Ashkenazi Jewish panel)
|
Gaucher disease mutations (N370S, L444P, 84GG, IVS2+1 G>A only) which are the most common mutations in persons of Ashkenazi Jewish descent |
83890
83898
83894
83891
83904(x8)
83912
|
No less than 2 mL in a purple top tube |
Blood at room temperature (refrigerate if kept overnight) |
2 weeks |
| GJB2 (includes ENT specialist interpretation) |
nonsyndromic hearing loss; connexin 26; 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
|
| GJB6 |
nonsyndromic hearing loss; 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
|
| GLA |
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 at room temperature (refrigerate if kept overnight) |
3 weeks |
| HAX1 |
Kostmann syndrome; severe congenital neutropenia |
83890
83898(x7)
83894(x9)
83891(x7)
83904(x14)
83909(x14)
83912 |
No less that 3 mL in purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
4 weeks |
Hearing Loss Panel
Tier 1
GJB2 sequencing with GJB6 deletion analysis and mitochondrial mutation screening.
|
Nonsyndromic 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 at 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 at 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 at room temperature (refrigerate if kept overnight) |
2 weeks
|
| IDS |
Hunter Syndrome (MPS II); iduronate sulfatase deficiency; 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 at room temperature (refrigerate if kept overnight) |
3 weeks
|
| IL2RG |
X-linked severe combined immunodeficiency (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 at room temperature (refrigerate if kept overnight) |
1 month |
JAG1
|
Alagille syndrome; 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
|
| JAK2 |
|
83890
83896(x10)
83898(x10)
83907
83912
83914(x3)
|
5-10 mL blood in EDTA tube or 3-5 mL bone marrow in EDTA tube |
Receive in lab the same day or ship overnight on wet ice. Do not allow to freeze. |
7-10 days |
JaundiceChip Resequencing Array
(Includes analysis of JAG1, SERPINA1, ABCB1, ABCB11 and ATP8B1)
|
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 |
Blood at room temperature (refrigerate if kept overnight) |
3-4 weeks |
MECP2
|
Rett syndrome; developmental delay or regression, autism spectrum disorders, severe neonatal encephalopathy in males |
83890
83898(x6)
83894(x6)
83891(x5)
83904(x10)
83909(x10)
83912 |
No less than 3 mL in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
3-4 weeks |
Mitochondrial mutation
screening*
for hereditary hearing loss
*A1555G, C1494T, A7445G, C7511T alleles only
|
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 at room temperature (refrigerate if kept overnight) |
2-3 weeks |
MUNC13-4 (UNC13D)
|
Familial hemophagocytic lymphohistiocytosis type 3; hemophagocytic lymphohistiocytosis, fevers, hepatosplenomegaly, pancytopenia, coagulation defects, CNS Involvement |
83890
83898(x22)
83894(x5)
83891(x22)
83904(x44)
83912
|
No less than 3 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
2 months |
MYO7A
|
Usher syndrome type 2 and nonsyndromic hearing loss |
83890
83898(x49)
83894(x49)
83891(x49)
83904(x98)
83912 |
No less than 3 ml. in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
4-5 weeks |
| NPM1 (quantatative) |
|
|
|
|
|
OTOF
|
Auditory neuropathy and nonsyndromic hearing loss |
83890
83898(x47)
83894(x47)
83891(x47)
83904(x94)
83912 |
No less than 3 ml. in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
4-5 weeks |
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 at room temperature (refrigerate if kept overnight) |
6 business days if received by Tuesdays @ 2 PM
|
| 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 at room temperature (refrigerate if kept overnight) |
2-3 weeks
|
PRF1
|
Familial hemophagocytic lymphohistiocytosis type 2; hemophagocytic lymphohistiocytosis, fevers, hepatosplenomegaly, pancytopenia, coagulation defects, CNS InvolvementHLH; 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 at room temperature (refrigerate if kept overnight) |
1 month
|
| Prothrombin (Factor II) genotype analysis |
|
|
|
|
|
| RAB27A |
Griscelli syndrome type 2 and familial hemophagocytic lymphohistiocytosis; hemophagocytic lymphohistiocytosis, fevers, hepatosplenomegaly, pancytopenia, coagulation defects, CNS Involvement with or without partial albinism |
83890
83898(x5)
83894(x7)
83891(x5)
83904(x12)
83909(x12)
83912 |
No less than 2 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
1 month
|
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 at room temperature (refrigerate if kept overnight) |
4 business days |
| SERPINA1 |
Alpha-1-antitrypsin deficiency; 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 |
| SERPINA1 genotype assay for PI*S and PI*Z alleles |
Alpha-1-antitrypsin deficiency; 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) |
2 business days |
| SH2D1A |
X-linked lymphoproliferative disease (XLP); fulminant Epstein-Barr Virus (EBV) infection, lymphoma, dysgammaglobinemia
|
83890
83898(x4)
83894(x4)
83891(x4)
83904(x8)
83912 |
No less than 3 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
1 month |
| SLC26A4 |
Pendred syndrome; 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 at room temperature (refrigerate if kept overnight) |
2-3 weeks |
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 at 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 at room temperature (refrigerate if kept overnight) |
|
STX11
|
Familial hemophagocytic lymphohistiocytosis type 4; hemophagocytic lymphohistiocytosis, fevers, hepatosplenomegaly, pancytopenia, coagulation defects, CNS InvolvementHLH; 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 at 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 at room temperature (refrigerate if kept overnight) |
1-2 weeks
|
| TPMT Genotype |
Genetic pharmacology testing |
83891
83898(x8)
83912 |
No less than 2 mL in purple top EDTA tube; cytobrushes are also acceptable |
Blood at room temperature (refrigerate if kept overnight) |
2 business days |
| Twin Zygosity Studies |
|
83890(x2)
83894
83898(x10)
83912 |
No less than 2 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
|
| WAS |
Wiskott-Aldrich syndrome, X-linked thrombocytopenia and severe congenital neutropenia; thrombocytopenia, small platelet diameter, eczema, recurrent infections, chronic neutropenia |
83890
83898(x7)
83894(x8)
83891(x6)
83904(x19)
83912 |
No less than 3 ml in a purple top EDTA tube |
Blood at room temperature (refrigerate if kept overnight) |
3-4 weeks |
| XIAP (BIRC4) |
X-linked lymphoproliferative disease (XLP); 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 at room temperature (refrigerate if kept overnight) |
1 month |
