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Departments Molecular Genetics

Molecular Genetics Lab Hours/Phone/Fax

  • Monday - Friday; 8 a.m. - 4:30 p.m.
  • Phone: (816) 701-4801
  • Fax: (816) 701-4818
  • Genetic Counselor: (816) 701-4862
  • After hours/weekends: page the Genetic Counselor at (816) 458-5011
General Information
  • Test requests should include the reason for the test
  • Pedigrees are requested for family studies

Molecular Genetics requisition

 

Constitutional Studies (Inherited Disease)
  • Peripheral blood in an EDTA vacutainer: adults 3-5 mL, infants 2 mL
  • Tissues (such as muscle or skin) must be placed immediately on dry ice unless cultured
  • Urine, mitochondrial screen ONLY - minimum 1 mL volume, random collection
  • Please contact the lab for instruction regarding prenatal specimens
Neoplastic Studies (Cancer)
  • Bone marrow should be drawn with no anticoagulant and rapidly placed into an EDTA vacutainer
  • Peripheral blood in an EDTA vacutainer
  • Tumors should be immediately placed on dry ice. An adjacent section should be analyzed by pathology for histology of the specimen
Tumor Specimen Handling
  • Place on dry ice immediately
  • Transport with sufficient quantity of dry ice to maintain frozen state
  • A -70ºC or colder freezer is acceptable for storage

Test Directory
Angelman Syndrome
B and T Cell Rearrangement
B cell Rearrangement
Beckwith Wiedemann Syndrome
BRAF V600E Mutation Testing
Comprehensive Symptom Driven Panel
Connexin 26
Custom Panel, 2-20 genes
Custom Sequencing
DNA Isolation/Storage
FLT3 TK & ITD
FLT3/NPM1
FLT3-ITD
Fragile-X Syndrome
LHON (Leber Hereditary Optic Neuropathy)
Macrocephaly
Marfan Syndrome Panel
MCAD (Medium Chain Acyl-CoA Dehydrogenase) Deficiency
MELAS (Mitochondrial Encephalomyopathy Lactic Acidosis & Stroke-like Episodes)
MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
Mitochondrial DNA Screen (MELAS, MERRF and tRNA genes- isoleucine, glutamine & methionine)
MODY Panel (HNF4A, GCK, HNF1A)
MODY1 (HNF4A gene)
MODY2 (GCK gene)
MODY3 (HNF1A gene)
Mowat-Wilson Syndrome
Noonan Syndrome Panel
Pitt-Hopkins syndrome
Prader-Willi Syndrome
Rett Syndrome Sequencing
Russell Silver Syndrome
Spinal Muscular Atrophy, SMN1 exon 7 deletion
Spinal Muscular Atrophy, SMN1/SMN2 Dosage
T Cell Rearrangement
Thrombosis (Factor V Leiden/Prothrombin)
Whole Genome Sequencing
X-chromosome inactivation

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