Molecular cytogenetic tests including:

• Affymetrix Resequencing Arrays: Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes panel and Periodic Fever Syndromes Panel
• GenomeDx: whole-genome aCGH
• FISH on Chip: targeted aCGH for common microdeletion/microduplication syndromes and all subtelomeres

Deletion/duplication tests (whether ordered as an independent test or as a reflex test following sequencing)

• ExonArrayDx: aCGH-based test to detect a deletion/duplication of one or more exons in a single gene or a panel of genes
• CopyDx: custom gene copy number analysis for any gene or chromosomal region
• Multiplex Ligation-Dependent Probe Amplication-MLPA: gene copy number analysis for selected genes

SINGLE GENE SEQUENCING TESTS

Agammaglobulinemia	BTK
Alagille Syndrome	JAG1
Androgen Insensitivity Syndrome	AR
Axenfeld-Rieger Syndrome	FOXC1, PITX2
Cerebral Cavernous Malformations	KRIT1, CCM2, PCDC10(CCM3)
Congenital & Cyclic Neutropenia	ELA2
Cowden S., BRR Syndrome and PTEN Hamartoma Tumor S.	PTEN
Dilated Cardiomyopathy (DCM)*	Panel of 23 genes*
Dopa-Responsive Dystonia	GCH1
Duane-Radial-Ray Syndrome	SALL4
Goltz Syndrome	PORCN
Gorlin Syndrome	PTCH
Greig cephalopolysyndactyly syndrome	GLI3
Hereditary Angioedema	C1INH
Hereditary Multiple Exostoses	EXT1, EXT2
Holoprosencephaly	SHH, SIX3, TGIF, ZIC2
Hydrocephalus, XL	L1CAM
Hypertrophic Cardiomyopathy (HCM)*	Panel of 17 genes*
Hypohidrotic Ectodermal Dysplasia w. Immune Def./Incont.Pigmenti (NEMO)	IKBKG
Hypohidrotic Ectodermal Dysplasia, XL	EDA1
Hypophosphatemic Rickets, XL	PHEX
Multiple Endocrine Neoplasia	MEN1
Nemaline Myopathy	ACTA1
OTC Deficiency	OTC
Pallister Hall syndrome (PHS)	GLI3
Peutz-Jeghers Syndrome	STK11
Pseudoachondroplasia/Multiple Epiphyseal Dysplasia	COMP
Recessive Chondrodysplasia Punctata	ARSE
Rubinstein-Taybi Syndrome	CREBBP
Severe Combined Immunodeficiency/Omenn Syndrome (Artemis)	DCLRE1C
Smith-Magenis Syndrome	RAI1
Townes-Brocks Syndrome	SALL1
Von Hippel Lindau	VHL

Please note that the minimum age for which we can accept buccal brush specimens in infants is 6 months. 1-2 mL of whole blood in EDTA (purple top tube) is required for babies under 6 months of age.

* For HCM/DCM and other Cardiac Genetic Testing Panels, blood samples are preferred. Please inquire about other specimen types.


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