Tests For Which Buccal Brushes Cannot Be Used

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
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
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.