Genetics Laboratory

Personnel

Director: Abdallah Elias, MD, Lab Director
Phone: 406-444-7500
Fax: 406-444-1022
Email: aelias@shodair.org
Corbin Schwanke, BA, Administrator
Phone: 406-444-7532
Fax: 406-884-2088
Email: cschwanke@shodair.org
Dongbin Xu, PhD, Staff

Conditions and tests

41 conditions/phenotypes with 28 tests
Enter text to narrow down the list

46,XX testicular disorder of sex development1 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
Angelman syndrome2 tests
Beckwith-Wiedemann syndrome2 tests
Chromosome 16, uniparental disomy2 tests
Complete trisomy 13 syndrome1 test
Complete trisomy 21 syndrome1 test
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
Distal monosomy 10p1 test
Dizygotic twins1 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Global developmental delay1 test
Hemochromatosis type 11 test
Huntington disease1 test
Intellectual disability1 test
Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
Miller Dieker syndrome1 test
Mosaic trisomy 211 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect2 tests
Multiple congenital anomalies1 test
Paternal uniparental disomy of chromosome 142 tests
Prader-Willi syndrome2 tests
Sex-linked hereditary disorder1 test
Silver-Russell syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Smith-Magenis syndrome1 test
Steinert myotonic dystrophy syndrome1 test
Thakker-Donnai syndrome1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Trisomy 181 test
Twinning, monozygotic1 test
Uniparental disomy of 112 tests
Uniparental disomy of 72 tests
Uniparental disomy of chromosome 61 test
Wiedemann-Steiner syndrome1 test
Williams syndrome1 test
X inactivation, familial skewed, 11 test
X inactivation, familial skewed, 21 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Balanced Chromosome Rearrangement Studies
Carrier testing
Genetic counseling
Marker Chromosome Identification
Maternal cell contamination study (MCC)
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
X-Chromosome Inactivation Studies
Angelman Syndrome Methylation
Beckwith-Wiedemann Syndrome Methylation
Chromosomal Microarray Analysis
Cystic Fibrosis Mutation Screening
Cytogenetic Analysis (Constitutional and Hematology Oncology)
Drug Metabolism Testing
FISH Analysis (Constitutional and Hematology Oncology)
Fragile X Syndrome Testing
Maternal Serum Screening
Myotonic Dystrophy Mutation Analysis
Prader-Willi Syndrome Methylation
Prenatal karyotyping and FISH Testing
Russell-Silvr Syndrome Testing
UPD chromosome 14 Methylation Testing
? Factor V Leiden / Prothrombin / MTHFR Variant Testing
? Hemochromatosis Mutation Analysis
? Huntington Disease Mutation Testing

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 27D0652530, Expiration date: 2025-01-02
JCAHO, Number: 27D0652530, Expiration date: 2023-07-28

Participation in external programs

Standardization programs

ISCA Consortium (International Standards for Cytogenomic Arrays)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.