Neurodegeneration with Brain Iron Accumulation (NBIA), Sequencing
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Requisition required.
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Synonyms:
NBIA NGS, ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, FUCA1, KIF1A, KMT2B (MLL4), MECR, PANK2, PLA2G6, PSEN1, SCP2, SLC39A14, SQSTM1, TRIM32, UBTF, VPS13A, WDR45
Calreticulin (CALR) Gene Mutations in Myeloproliferative Neoplasms
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Requisition required.
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Synonyms:
Myeloproliferative Disorder
Breakage Analysis: Skin Chromosome Study
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Requisition required.
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Synonyms:
Fanconi Anemia
Fanconis Anemia
Somatic mosaicism
BRAF Mutation Analysis
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Requisition required.
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Synonyms:
BRAF Gene Mutation (exon 15)
Chromosomal Microarray – Postnatal
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Requisition required.
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Synonyms:
aCGH
Array CGH
BAC Array
Competitive genomic hybridization
Microarray Comparative Genomic Hybridization
Hypertriglyceridemias Panel
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Requisition required.
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Synonyms:
Triglyceride
APOA5, APOC2, GPIHBP1, LMF1, LPL
Hypercholesterolemia Panel
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Requisition required.
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Synonyms:
Familial Hypercholesterolemia
FH
Heterozygous FH (HeFH)
Homozygous FH (HoFH)
Lipid Disorders
APOB, LDLR, LDLRAP1, PCSK9
Holoprosencephaly Panel
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Requisition required.
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Synonyms:
HPE, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
BRCA1/BRCA2 Sequencing and Del/Dup
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Requisition required.
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zz-Archived Fabry Disease
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Requisition required.
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Synonyms:
GLA