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• Alphabetical test catalog

Alphabetical Test Catalog

A
AFP

ALK t(2;5)

Amniotic Fluid chromosome analysis

Aneuploidy, Direct Interphase FISH (13, 18, 21, X,Y)

Angelman Syndrome

Angelman Syndrome Microdeletion

B
Beckwith-Wiedemann Syndrome

BCR/ABL T(9;22)

Bone Marrow chromosome analysis

C
C-myc 8q

CEP 8 (trisomy 8)

CEP 12 (trisomy 12)

CEP X/Y (donor sex (BMT))

Chorionic Villus Sample chromosome analysis

Chromosome Analysis, Amniotic Fluid

Chromosome Analysis, Chorionic Villi Sample

Chromosome Analysis, Bone Marrow

Chromosome Analysis, Fetal tissue (products of conception)

Chromosome Analysis, Peripheral blood

Cri du Chat (5p15)

Cytochrome P450 2C9 Testing

Cytochrome P450 2C19 Testing

Cytochrome P450 2D6 Testing

Cytochrome P450 Consultation

D
D13S25/D13S319 13q deletion/monosomy 13

D20qS108 (20q deletion)

DiGeorge/VCFS (22q11.21-q11.23)

Direct Interphase FISH for aneuploidy (13, 18, 21, X,Y)

E
EGR 1/CSFIR 5q deletion

F
Factor V Leiden

Fetal tissue (products of conception) chromosome analysis

FISH, Direct Interphase for Aneuploidy

FISH, Hematopathology on interphase nuclei

FISH, HER2/neu

FISH, Microdeletion

Fragile X Syndrome / Fragile X Tremor-Ataxia Syndrome

H
Hematopathology FISH

Hemochromatosis

Her2/neu FISH

Huntington Disease

K
Kallman Syndrome (Xp22.3)

M
Maternal Cell Contamination

Microdeletion FISH

Miller-Dieker (17p13.3)

MTHFR

Multiplex Trisomy

Myotonic Dystrophy

N
N-myc 2p

P
P53 17p

Peripheral blood chromosome analysis

Pharmacogenetic Consultation Services

Pharmacogenetic Cytochrome P450 2C9 Testing

Pharmacogenetic Cytochrome P450 2C99 Testing

Pharmacogenetic Cytochrome P450 2D6 Testing

PML/RARA t(15;17)

Prader-Willi Syndrome Methylation

Prader-Willi Syndrome Microdeletion

Prothrombin (Factor II)

Q
Quad Screen (AFP, hCG, uE3, Inhibin A)

R
Retinoblastoma (13q14)

Russell-Silver Syndrome (UPD7)

S
Serum Integrated Screen (PAPP-A + Quad)

Sex Chromosome Screen

Sex determining Y (Yp11.3)

Smith-Magenis (17p11.2)

T
TEL/AML 1 t(12;21)

Triple Screen (AFP, hCG, uE3)

U
Uniparental Disomy Screening (2, 6, 7, 8, 11, 14, 15, 16, 20, X)

W
Warfarin Sensitivity Testing (CYP2C9 + VKORC1)

Williams (7q11.23)

Wolf-Hirschhorn (4p16)

X
X-Chromosome Inactivation

X-linked ichthyosis (Xp22.3)

Y
Y-Chromosome Detection

Z
Zygosity (twin) Studies

11q23 (rearrangements of 11q23)