Discontinued Tests

The following is a list of tests that are no longer offered as part of Ambry's comprehensive testing menu:


  • AmbryScreen Version 2
  • Ashkenazi Jewish Panel with all 16 Conditions
  • Ashkenazi Jewish FlexPanel (targeted mutation analysis)
  • Aspartylglucosaminuria (AGA gene sequence)
  • CASR Gene Sequence Analysis
  • Cerebral cavernous malformations (KRIT1, CCM2, and PDCD10 gene sequence and deletion/duplication)
  • Congenital hyperinsulinism-hyperammonemia syndrome (GLUD1 gene sequence)
  • Dihydropyrimidine dehydrogenase deficiency (DPYD gene sequence)
  • Fabry disease (GLA gene sequence)
  • Glutaric acidemia type 1 (GCDH gene sequence)
  • Glutathione synthetase deficiency (GSS  gene sequence)
  • Glycogen storage disease types 1A & 1B (G6PC and SLC37A4 gene sequence)
  • Hurler syndrome (IDUA gene sequence)
  • Hyperoxaluria type 2 (GRHPR gene sequence)  
  • INS-related diabetes, neonatal diabetes (INS gene sequence)
  • KCNJ11-related congenital hyperinsulinism, neonatal diabetes (KCNJ11 gene sequence)
  • Lysosomal free sialic acid-storage (Salla) diseases (SLC17A5 gene sequence)
  • MCAD- Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADM gene sequence) 
  • MTRNR1 Gene Sequence Analysis
  • Mucolipidosis TypetIV (MCOLN1 gene sequence)
  • Niemann-Pick disease types A & B (SMPD1 gene sequence) 
  • Niemann-Pick disease types C1 and C2 (NPC1 and NPC2 gene sequence)
  • Phenylketonuria or PKU (PAH gene sequence)
  • Pompe disease (GAA gene sequence)
  • Primary ciliary dyskinesia 61TM+SSAs
  • Pulmonary arterial hypertension (BMPR2 gene sequence and deletion/duplication)
  • Rhizomelic chondrodysplasia punctata type I (PEX7 gene sequence)
  • Tay-Sachs disease enzyme assay
  • Thrombophilia Flexpanel
  • VLCAD- Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL gene sequence)
  • Warfarin sensitivity (VKORC1 & CYP2C9 common mutation analysis)
  • X-linked lymphoproliferative disease (SH2D1A gene sequence) 


  • XLID Next-Gen Panel
  • Amyotrophic lateral sclerosis (SOD1, ANG, FIG4, FUS, and TARDBP gene sequence)    
  • Andermann syndrome/Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (SLC12A6 gene sequence)
  • Spinal muscular atrophy (SMA) carrier testing
  • XLMR Super Panel (now XLID Panel)


  • BRAF SMA V600E Analysis
  • MLH1 hypermethylation analysis
  • MLH1 hypermethylation with BRAF (Analysis of V600E only) analysis
  • MMR Profile by IHC (MLH1, MSH2, MSH6, PMS2)
  • MSI by PCR


  • Y chromosome microdeletion analysis

Please feel free to contact one of our specialists to aid in your diagnostic process by filling out our contact form and selecting ‘Reach Client Services’.