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Constitutional/Germline Testing

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Please note:

  1. Urgent testing is limited to families with an active pregnancy, patients <6 months in age, or patients with positive newborn screening result.

  2. Due to high volumes of inquiries and resource limitations, the laboratory will not answer inquires about status of testing until the targeted TAT has been exceeded.  

  3. Please click the Laboratory Test Information Guide link listed under each test for additional details, including a link to the requisition, technical/assay information, specimen and collection requirements, and special instructions that may apply

Alpha Thalassemia

Routine: 6 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Beta Thalassemia

Routine: 6 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Chromosomal Microarray

Routine: 8 weeks
Urgent: 4 weeks

FISH

Routine: 24 weeks
Urgent: 2 weeks

Familial Hypercholesterolemia Panel

Routine: 6 weeks
Urgent: 4 weeks

Galactosemia (GALT)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Gamma Polymerase Deficiency (POLG)

Routine: 12 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Genomic Family Follow-Up

Routine: 24 weeks
Urgent: 6 weeks

Hemochromatosis (HFE)

Routine: 8 weeks
Urgent: 5 days

Hemoglobin Variants (HbS, Sickle Cell, HbC, HbE, Hb Lepore)

Routine: 6 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Hemoglobinopathy

Routine: 6 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Hemoglobinopathy (Alpha/Beta-Thalassemia, Sickle Cell, Hemoglobin Variants)

Routine: 6 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Hyperferritin Cataract Syndrome (FTL)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Karyotype

Routine: 24 weeks
Urgent: 4 weeks

Medium Chain Acyl-Coenzyme Deficiency (ACADM)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Metachromatic Leukodystrophy (ARSA)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Mitochondrial Genome Panel

Routine: 12 weeks
Urgent: 4 weeks

Prothrombin Gene Mutation/Factor V Leiden Genetic Test Panel

Routine: 30 days
Urgent: 5 days

QF-PCR

Routine: 8 weeks
Urgent: 5 days

Quebec Platelet Disorder (PLAU)

Routine: 6 weeks Urgent: 5 days

Smith-Lemli-Opitz Syndrome (DHCR7)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

Thiopurine S-Methyltransferase (TPMT)

Routine: 10 days
Urgent: 5 days

Very Long Chain Acyl-Coenzyme Deficiency (ACADVL)

Routine: 8 weeks
Urgent: 4 weeks
Fetal: 2 weeks

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