Test Catalog

MITOCHONDRIAL GENOME DISORDERS
MITO-WGA	Whole Mitochondrial Genome Analysis with Haplotyping
MITO-PT-DEL	mtDNA Disorder Point Mutation and Deletion Assay
MITO-DEL	mtDNA Deletion Assay (CPEO, KSS, Maternally Inherited Deafness, Pearson’s Syndrome)
MITO-COPY	Mitochondrial Copy Number
CYTB	Cytochrome b (MTCYB)
RCD	Reversible Cox Deficiency
DFNS	Deafness, Aminoglycoside-Induced Nonsyndromic Deafness
LHON	Leber’s Hereditary Optic Neuropathy
MELAS	Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes
MERRF	Myoclonus Epilepsy with Ragged Red Fibers
NARP	Neurogenic Weakness, Ataxia, Retinitis Pigmentosa and Leigh’s Syndrome
NUCLEAR MITOCHONDRIAL DISORDERS
NUCLEAR-MITOME	Comprehensive Sequence Analysis of >400 Nuclear Mitochondrial Genes
POLG	POLG-Related Disorders: PEO, Alper’s Syndrome, Parkinsonism, Juvenile SCAE and SANDO
POLG2	POLG2-Related Disorders
SLC25A4	Autosomal Dominant Progressive External Ophthalmoplegia
C10orf2	Autosomal Dominant Progressive External Ophthalmoplegia (TWINKLE or PEO1)
AD-PEO PANEL	POLG, SLC25A4, C10orf2
TYMP	MNGIE Syndrome (Mito-Neurogastrointestinal Encephalomyopathy)
COMPLEX I PANEL	NDUFA1, NDUFA2, NDUFA7, NDUFAF2, NDUFAF3, NDUFAF4, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2
BCS1L	Complex III Deficiency – Bjornstad Syndrome, GRACILE Syndrome
COMPLEX IV PANEL	Complex IV Deficiency Panel – (COX10, SCO1, SCO2, SURF1)
DGUOK	mtDNA Depletion Syndrome – Hepatocerebral Form
MPV17	mtDNA Depletion Syndrome – Infantile Hepatic Form
TK2	mtDNA Depletion Syndrome – Myopathic Form
MITO-DEP	Mitochondrial Depletion Syndrome, Hepatocerebral Form, Panel (MPV17, DGUOK, POLG1)
MITO-DEP/DEL	Mitochondrial Depletion Syndrome and Multiple Deletion Panel (POLG1, TK2, DGUOK)
EPILEPSY AND SEIZURE-RELATED DISORDERS
FSP	Febrile Seizure Panel (SCN1A, SCN1B, SCN2A, GABRD, GABRG2 and Large Del/Dup analysis of SCN1A)
FFSP	Female Febrile Seizure Panel (Febrile Seizure panel plus sequencing of PCDH19)
SCN1A	Sequencing - GEFS+, Dravet Syndrome
SCN1A-DEL/DUP	Large Scale Deletion/Duplication Detection
SCN1A-REF	SCN1A Sequencing reflexes to SCN1A Deletion/Duplication Analysis
SCN1A-COM	SCN1A and SCN1A Deletion/Duplication run in parallel
SCN1B	GEFS+, Dravet Syndrome
SCN2A	GEFS+, Dravet Syndrome
GABRD	GEFS+, Dravet Syndrome
GABRG2	GEFS+, Dravet Syndrome
PCDH19	Epilepsy limited to females with mental retardation
CHROMOSOMAL ANALYSIS
KARYO	Karyotyping
CMA-180K	Microarray Chip-180K
OTHER TESTS
CPT2	CPT2 Deficiency
OPA1	Optic Atrophy Type 1
VLCAD	VLCAD Deficiency
CDKL5	Autism, Rett Syndrome
MECP2	Sequencing
MECP2-DEL/DUP	Large Scale Deletion/Duplication Analysis
MECP2-REF	MECP2 Sequencing reflexes to MECP2 Deletion/Duplication Analysis
MECP2-COM	Sequencing and Deletion/Duplication run in parallel
BDNF	Brain-Derived Neurotrophic Factor (BDNF) Epilepsy
PTEN	Autism
UBE3A	Angelman Syndrome
FRAGX-M	Fragile X Syndrome (FMR1; Male)
FRAGX-F	Fragile X Syndrome (FMR1; Female)
NOONAN	Noonan Syndrome (PTPN11, RAF1, SOS1, KRAS)
LPIN1	Autosomal Recessive Recurrent Myoglobinuria
PWS	Prader-Willi Syndrome
ONCOLOGY
KIT	Exons 8 through 17
KIT 1	Tier 1 (Exons 8, 9, 11, 13, 17)
KIT 2	Tier 2 (Exons 10, 12, 14, 15, 16)
KRAS	KRAS
PIK3CA	Exons 9 and 20
P53	P53
PTEN	PTEN
VHL	Von Hippel-Lindau Cancer Syndrome