Clinical and research tests for 504864 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ALDH5A1 Sequence Analysis Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Thrombophilia Panel Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	5	4	T Targeted variant analysis
Chromosome breakage analysis for Fanconi Anemia Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	B Chromosome breakage studies
Prader-Willi syndrome Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	M FISH-metaphase
Miller-Dieker Syndrome FISH Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	2	1	I FISH-interphase M FISH-metaphase
Smith-Magenis syndrome, deletion 17p11.2 Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	I FISH-interphase M FISH-metaphase
Ectodermal Dysplasia via the EDARADD Gene Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	3	1	C Sequence analysis of the entire coding region
Di George Syndrome Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	2	1	M FISH-metaphase
Williams Syndrome Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	I FISH-interphase M FISH-metaphase
Chromosome Analysis: Cancer Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	11	1	K Karyotyping
Prenatal Rapid Screen by FISH for 13, 16, 18, 21, X and Y Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	5	6	I FISH-interphase M FISH-metaphase K Karyotyping
LMNA-related disorders (LMNA) sequencing Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	9	1	C Sequence analysis of the entire coding region
Huntington Disease (HD) Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	T Targeted variant analysis
Galactosemia (GALT) Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	T Targeted variant analysis
Hypohidrotic Ectodermal Dysplasia, EDAR gene Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	C Sequence analysis of the entire coding region
Myotonic Dystrophy Type 1 - DMPK Gene Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	T Targeted variant analysis
Cystic Fibrosis (CFTR) Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
BRCA 1 and BRCA2 Gene Sequencing Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	4	2	D Deletion/duplication analysis S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	S Mutation scanning of the entire coding region
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	S Mutation scanning of the entire coding region

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